Diko : en:increased susceptibility to herpes encephalitis

en:increased susceptibility to herpes encephalitis

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Langue:anglais

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789

en:neutropenia

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en:lack of acquired antibodies

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en:increase in proinflammatory cytokines

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en:immunodeficiency syndrome

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en:hyperglobulinemia, polyclonal (in some patients)

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en:tissue biopsy shows granulomas

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en:defective b cell differentiation

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en:block of b-cell differentiation

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en:marked depletion of lymphoid tissues

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en:reduced cd3 t-lymphocyte counts

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en:impaired cellular responses to certain cytokine pathways

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en:recurrent opportunistic infections

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en:thymus hypoplasia (in some patients)

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en:decreased circulating b cells

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en:decreased effector t cells

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en:decreased memory b cells, progressive

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en:non-caseating granulomas (bone marrow and lymph nodes)

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en:associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo)

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en:severe b lymphocytopenia

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en:lymphadenitis subsequent to bcg vaccination (in 1 patient)

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en:decreased itk protein in lymphoid tissue

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en:slightly reduced neutrophil adherence

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en:microorganism immunology

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en:recurrent infections, particularly to viruses and fungi

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en:reduced natural killer cell number

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en:activation of the alternative complement pathway and depletion of complement components

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en:absent or small dysplastic thymus

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en:enterovirus infections

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en:immune dysregulation

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en:reduced natural killer cell cytotoxicity

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en:kappa-chain deficiency

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en:defective neutrophil adhesion to endothelial cells

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en:hyperplasia of tonsils

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en:susceptibility to infection with influenza a infection

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en:pregnancy immunology

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en:defective antibody production against polysaccharide-based vaccines

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en:hypereosinophilia

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en:absent antibody production

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en:hypogammaglobulinemia, profound

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en:immunodeficiency, severe combined (in some patients)

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en:papillomavirus infections

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en:repeated invasive infections

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en:severely reduced proliferative response to mitogens, antigens, and alloantigens

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en:variable (often increased) number of activated cd45ro+, dr+ circulating t cells

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en:agammaglobulinemia

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en:food allergy

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en:increased susceptibility to infections

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en:low igg and iga

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en:low levels of memory b cells

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en:normal numbers of lymphocytes and nk cells

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en:normal activity of natural killer cells

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en:upregulation of alpha-interferon-stimulated genes

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en:approximately 60% of patients have anti-gad65 antibodies

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en:increased serum ige, iga, igg

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en:low igg

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en:tnf continuously elevated (in some patients)

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en:perirectal abscess

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en:absent or severely reduced numbers of b cells

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en:autoimmune disease (in some patients)

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en:increased delta-gamma cd8+ t cells (family b)

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en:neutrophils show defective intracellular nadph oxidase production

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en:absence of anti-thyroid antibodies

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en:decreased number of tcr alpha/beta+ t cells

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en:generalized enlarged lymph nodes

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en:low memory b cells

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en:lymph node architecture severely altered: lack of follicles, depletion of lymphocytes, and increased proportion of interdigitating reticular cells and eosinophils

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en:neutropenia (in some patients)

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en:decreased neutrophil and monocyte migration and chemotaxis

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en:lupus erythematosus, systemic

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en:normal or increased numbers of transitional b cells

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en:increased frequency of bacterial, viral, and fungal infections

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en:increased susceptibility to pneumocystis and cytomegalovirus infections

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en:recurrent candida infections

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en:recurrent fevers

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en:mycobacterium infections

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en:neutrophils show disorganized lysosomal compartments on ultrastructural analysis

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en:low t cells

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en:increase in b cell number

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en:increased total number of cd19+ b cells

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en:recurrent infections (otitis media and bacterial pneumonia)

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en:increased nonspecific cd8+ t-cell proliferation

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en:inability to mount antibody response to antigen

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en:impaired nk cell degranulation (in some patients)

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en:immune disorder (in rare mutations carriers unaffected by a hematologic malignancy)

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en:lymphohistiocytosis

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en:lymphocyte count normal

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en:no evidence of common prenatal infections

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en:lymphopenia

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en:lymph node hyperplasia

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en:markedly elevated iga

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en:moderately depressed antibody response to polysaccharide antigens

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en:monocytosis

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en:normal numbers of cd56+ natural killer cells

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en:normal thymus

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en:granulocyte dysfunction (1 patient)

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en:often an infecting organism cannot be identified

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en:opportunistic infections (cmv, pneumocystis, candida)

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en:recurrent infections, bacterial and fungal

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en:hyperproliferation of effector t cells

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en:defective b cell activation

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en:frequent infections in childhood

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en:decreased cd3 expression on t cells

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en:abnormality of humoral immunity

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en:abnormally large monocytes with vacuoles

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en:absent peripheral blood b cells

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en:b cells lack surface cd19 expression

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en:cd4+ t-cell lymphopenia

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en:cells show impaired immunologic responses to immune stimulation

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en:combined variable immunodeficiency

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en:congenital hypoplasia of thymus

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en:decreased b cells

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en:decreased immunoglobulin g (igg)

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en:frequent fungal, viral, and opportunistic infections

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en:decreased memory b cells (in some patients)

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en:decreased numbers of long-term memory cd8+ t cells

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en:decreased numbers of t cells

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en:decreased number of cd8+ t cells

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en:decreased serum iga

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en:defective production of nfkb1-dependent cytokines by white blood cells

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en:defective t-cell proliferative responses

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en:depletion of components of the alternative complement pathway

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en:dysfunctional alternative complement pathway

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en:dysgammaglobulinemia

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en:recurrent infections (enteritis, otitis, and urinary infection)

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en:chronic human papillomavirus (hpv) infection

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en:recurrent infections of mucosal surfaces

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en:normal or increased numbers of b cells

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en:increased serum igm (in some patients)

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en:low specific antibody titers (e.g., tetanus, polio virus, mumps, rubella)

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en:lymphadenopathy

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en:lymphadenopathy subsequent to bcg vaccination

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en:markedly elevated ige

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en:markedly reduced numbers of natural killer cells

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en:moderate-low complement c3

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en:myeloid proliferation

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en:normal number of circulating lymphocytes

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en:normal number of t cells

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en:normal serologic immunoglobulin production to vaccination

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en:increased ige impaired nk cell activity

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en:no concurrent parasitic infection

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en:no immunodeficiency

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en:nut hypersensitivity

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en:partial t-cell lymphopenia

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en:paucity of lymphoid tissue

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en:recurrent infections (1 patient)

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en:some patients may have autoantibodies to factor h, resulting in functional factor h deficiency

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en:susceptibility to infection with human herpesvirus

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en:reduced natural killer cell activity

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en:herpes simplex encephalitis, susceptibility to, 7

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en:increased proportion of hla dr+ and cd57+ t cells

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en:very low lymphocyte proliferation in response to mitogens and alloantigens

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en:inability to reject allogenic cells

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en:block at the pro-b to pre-b stage of differentiation

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en:impaired t cell proliferative response

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en:t-cell dysfunction (1 patient)

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en:t-cell lymphopenia

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en:thymic hypoplasia or aplasia

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en:varicella zoster infection

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en:immunotoxicity

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en:abnormality of b cell physiology

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en:absence of lymph node germinal center

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en:absent b lymphocytes in all organs

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en:autoantibodies

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en:relative t-cell anergy

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en:c1q molecule present, but dysfunctional

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en:defective b cell class-switching

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en:hemolytic anemia (in some patients)

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en:hashimoto disease

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en:defective macrophage function

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en:hemophagocytosis in bone marrow and lymph nodes

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en:defective antibody production

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en:decreased number of cd4+ t cells

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en:decreased numbers of b-cell precursors seen in bone aspirate

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en:decreased immunoglobulins, progressive

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en:nk cells showed unusual surface cd16 antibody reactions

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en:impaired production of interferon-gamma in response to mycobacterial infection

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en:impaired t cell function

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en:impaired t cell proliferation and activation

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en:increased activated cd8+ t cells

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en:increased il6, episodic

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en:increased susceptibility to neisseria infections

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en:lack of thymus on ultrasound

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en:leukopenia

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en:immunodeficiency (in some patients)

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en:no concurrent allergies

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en:normal igg, iga, igm, ige levels

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en:normal numbers of b cells

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en:normal numbers of immune cells

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en:normal response to bacterial antigens

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en:t cell defect, mild to severe

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en:periodic fevers (in some patients)

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en:polysaccharide antibody response defect

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en:poor proliferative response of t lymphocytes to specific antigens

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en:recurrent infections

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en:small thymus

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en:hyperinflammatory state (in some patients)

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en:hypogammaglobulinemia

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en:decreased t cell activation

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en:hypergammaglobulinemia

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en:b-cell lymphocytosis, b-cell, polyclonal

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en:abnormal immunoglobulin level

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en:psychoneuroimmunology

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en:immunology, other

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en:abnormal lymphocytic accumulation in non-lymphoid tissue

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en:abscesses are 'cold,' lacking erythema, heat, and swelling

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en:absent cd8+ t cells

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en:absent plasma cells in all organs

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en:absent specific antibody response

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en:autoinflammation

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en:decreased lymphatic tissue (tonsil, thymus, mesenteric nodes, peyer patches)

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en:hla antigens cw6, b13, b17 associated with psoriasis

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en:decreased naive cd4+ and cd8+ t cells

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en:decreased t cell proliferation

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en:defective antibody production, particularly t-cell-independent

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en:defective generation of somatic hypermutations (shm)

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en:defective intracellular signaling in lymphocytes

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en:defect in b-cell differentiation

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en:deficient nk-cell mediated spontaneous and antibody-mediated cytotoxicity

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en:dermatomyositis (in 1 patient)

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en:escherichia coli infection

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en:generalized lymphohistiocytic infiltrates in late phase

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en:variable antibody response to vaccination

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en:normal numbers of lymphocytes

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en:absent mitogenic response

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en:no evidence of immunodeficiency

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en:increased effector cd8+ t cells

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en:increased susceptibility to candidal infections

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en:low-normal iga levels

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en:lymphadenitis

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en:lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells

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en:normal b-cell (cd19+) count

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en:normal nk cells

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en:variable autoimmune disorders

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en:normal titers to t cell-dependent vaccines

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en:poor t-cell mitogen response

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en:impaired ig class switch recombination

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en:primary dysfunction of b-lymphocyte isotype switching and memory b-cell generation

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en:recurrent bacterial infection

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en:serum complement decreased

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en:skin anergy to recall antigens

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en:small lymph nodes

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en:small or absent thymus, which contains poorly formed hassal corpuscles

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en:t-lymphocyte deficiency

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en:thymoma

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en:usually precipitated by viral infection (influenza a, influenza b, parainfluenza ii, and mycoplasma pneumoniae)

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en:absent mucosal associated invariant t cells

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en:impaired t cell immunity

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en:recurrent viral infection

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en:impaired b cell class-switching

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en:decreased or absent il12r-beta-1 expression on t cells

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en:immunoglobulin a deficiency (disorder)

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en:arrest of b cell development at very early stage

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en:autoimmune neutropenia (less common)

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en:b cells lack surface cd19 and cd81 expression

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en:candidiasis, chronic mucocutaneous

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en:circulating t and b cells are naive

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en:decreased iga, plasma and secretory

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en:decreased invariant nk t cells

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en:decreased levels of naive t cells

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en:chronic viral infections (1 patient)

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en:decreased percentage of igd- igm- cd27+ class-switched memory b cells

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en:evidence of ebv infection

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en:hypersensitivity

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en:decreased specific antibodies

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en:histology shows large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen

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en:frequent illnesses

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en:hypergammaglobulinemia (in some patients)

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en:decreased t cells

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en:disseminated infection with dimorphic fungi (coccidioides and histoplasma)

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en:diminished proliferative response of t cells to allogenic cells, mitogens, and antigens

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en:ectopic thymus

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en:undetectable/absent peripheral lymph nodes

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en:patient cells show no gamma-interferon response to il12

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en:recurrent mycobacterial disease (bcg and m. tuberculosis)

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en:recurrent severe and invasive bacterial infections

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en:specific antibody production very poor

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en:susceptibility to ebv and cmv infections

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en:mild to moderately reduced t cell count

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en:immunology

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en:absent cellular immunity

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en:absent or reduced cd3+ cells

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en:alpha/beta, cd4-/cd8- t cells are minimally or not increased

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en:burkholderia cepacia infection

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en:b-cell lymphocytosis

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en:b-cell lymphopenia

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en:mycoses

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en:defective natural killer cell (nk) activation

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en:mildly decreased or normal t-cell proliferative responses

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en:exaggerated cellular immune processes

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en:cd4/cd8 ratio decreased

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en:neuroimmunomodulation

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en:cellular immunology

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en:antinuclear autoantibodies (in some)

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en:autoimmune disorders (i.e., itp, juvenile rheumatoid arthritis (jra), hypothyroidism, crohn disease)

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en:combined humoral and cellular immunodeficiency

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en:hypoglobulinemia result

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en:markedly elevated ige levels

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en:immune defect due to a t cell deficit

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en:immunologic evaluation unremarkable

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en:impaired b cell memory cells

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en:increased percentage of naive igd+ igm+ cd27- b cells

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en:increase in tlr2+ (603028)/tlr4- (603030) granulocytes

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en:low-to-absent igg, iga, ige

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en:c8 deficiency

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en:decreased t cell response to mitogens

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en:decreased cd19+ b cells

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en:recurrent candidal infections

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en:increase in b cells (in some patients)

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en:lymphoid depletion

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en:lymphoid hypoplasia

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en:opportunistic infections

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en:present but small tonsils

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en:recurrent bacterial, viral, and fungal infections

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en:reduced cd3+, cd4+, and cd8+ t-lymphocytes

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en:increased levels of t cells bearing gamma/delta antigen receptor

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en:reduced cd4+/cd8+ ratio with cd8+ predominance

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en:reduced t cell cytotoxicity

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en:susceptibility to mycobacterial disease

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en:systemic lupus erythematosus (in some patients)

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en:thrombocytopenia (in some patients)

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en:decreased cd4+cd45ra+ t cells

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en:increased susceptibility to virus (in some patients)

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en:pseudomonas infections

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en:increased igm levels, polyclonal

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en:defective t cell function

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en:decreased cd4+ cells subset

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en:increased circulating transitional b cells (cd19+cd38+igm+)

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en:decreased lymphocyte apoptosis

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en:decreased or normal numbers of nk cells

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en:decreased serum igg and igm

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en:defective cd8+ t cell function

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en:defective humoral response

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en:extrahepatic reticuloendothelial system spared

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en:herpesviridae infections

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en:hyperinflammatory state

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en:hypoimmunoglobulinemia

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en:impaired antiviral response to alpha- and beta-interferon signaling

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en:impaired interferon production

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en:increased alpha-interferon activity

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en:low or normal serum immunoglobulins

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en:sjogren's syndrome

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en:increased susceptibility to mycobacterial infections

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en:increased susceptibility to severe and frequent infections with staphylococcus aureus

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en:increased t cell activation

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en:increase in proinflammatory chemokines

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en:lack of autoantibodies

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en:reduced cd4+ t cells

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en:non-malignant mixed lymphohistiocytic infiltration of the reticuloendothelial system

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en:normal b-cell count

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en:normal numbers and function of t cells

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en:polymorphic b cell lymphoproliferation

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en:properdin deficiency, x-linked

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en:recurrent sinopulmonary infections

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en:recurrent staphylococcal and gram-negative infections

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en:impaired antiviral response to alpha-interferon signaling

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en:increased ige level

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en:absence of lymph nodes (in 1 patient)

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en:hay fever

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en:decreased cd27+ b cells

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en:absence of auto-antibodies to intrinsic factor or parietal cells

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en:absence of pancreatic autoantibodies

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en:antibody-dependent cellular cytotoxicity of nk cells is unaffected

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en:armed macrophage

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en:autoinflammatory disorders

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en:circulating immune complexes

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en:cytokine defects

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en:decreased expression of neonatal fc receptor

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en:environmental illness

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en:decreased igm and igg2

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en:decreased natural killer t cells

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en:decreased serum complement factor h (cfh, 134370)

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en:decreased t-cell proliferative responses in vitro

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en:defective neutrophil function

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en:elevated iga (equal to or greater than 2.6g/l)

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en:elevated polyclonal igd (equal to or greater than 100 iu/ml)

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en:residual rag1 and rag2 activity

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en:increased susceptibility to certain bacterial infections, especially neisseria meningitidis

•

en:small lymph nodes, which lack paracortical regions

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en:recurrent febrile illnesses

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en:increased igm (1 patient)

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en:lack of circulating monocytes

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en:low to normal immunoglobulin levels

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en:natural killer t cell count decreased

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en:normal b cells

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en:normal numbers of circulating t cells

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en:normal numbers of t and b cells

•

en:recurrent infections, particularly herpes viral

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en:impaired lymphocyte proliferation response to malignancy

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en:recurrent infections (increased susceptibility to mycobacterial infection after bcg immunization)

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en:recurrent infections at variable sites (sinusitis, otitis media, facial cellulitis, adenitis, blepharitis, conjunctivitis, gastroenteritis)

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en:recurrent meningococcal disease

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en:recurrent skin and respiratory infections

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en:t cells may show impaired proliferative response to tetanus toxoid

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en:variably impaired t-cell proliferative responses

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en:vitiligo

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en:impaired seroconversion of immunoglobulins in response to vaccination

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en:recurrent severe infections

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en:impaired cellular and humoral immunity

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en:congenital absence of thymus

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en:immunologic and autoimmune evaluation unremarkable

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en:antibodies

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en:abnormality of t cells

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en:abscess formation in any organ

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en:autoimmune disease resembling systemic lupus erythematosus (sle, 152700) (in about 26%)

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en:bone marrow shows deficient granulopoiesis

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en:combined immunodeficiency (reported in 1 patient)

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en:abnormal ratios of cd4+ helper t cells

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en:cutaneous anergy

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en:igg, decreased

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en:decreased cellular caspase-8 levels

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en:decreased numbers of thymus emigrant cells

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en:decreased serum complement factor i

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en:defective antigen-specific skin response

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en:frequent bacterial, fungal and viral infections

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en:frequent infections t-lymphocyte dysfunction, rare

•

en:decreased cd8+ cells subset

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en:impaired signaling through the t-cell receptor

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en:increased serum ige (1 patient)

•

en:increase in cd8+ t cells (in some patients)

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en:isolated absence of cd8+ t cells

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en:klebsiella infections

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en:low igg with antibody deficiency

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en:markedly reduced neutrophil motility

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en:low naive t cells

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en:lymphadenopathy (in some patients)

•

en:lymphopenia (1 family)

•

en:monocytes show impaired motility

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en:neutropenia (in most patients)

•

en:hyperinflammatory disorder

•

en:normal serum immunoglobulin levels

•

en:impaired immune responses

•

en:decreased cd4+ t cells

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en:hemophagocytosis in bone marrow, lymph nodes, spleen, liver, and central nervous system

•

en:granuloma formation

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en:dendritic cell cytopenia

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en:defective antibody response

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en:decreased serum igm

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en:decreased regulatory t cells

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en:decreased percentage of igd+ igm+ cd27+ memory b cells

•

en:decreased numbers of naive cd4+ and cd8+ t cells

•

en:decreased cd8+ t cells

•

en:autoimmunity (rare)

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en:associated with autoimmune disorders (systemic lupus erythematosus 152700 and hashimoto thyroiditis 140300)

•

en:absent natural killer cell cytotoxicity

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en:absent microvilli on the surface of peripheral blood lymphocytes

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en:abnormal delayed hypersensitivity skin test

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en:no immune defects reported

•

en:normal to elevated igg

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en:partially defective antibody production

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en:no severe viral infections

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en:invasive bacterial, viral, and mycobacterial infections

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en:undetectable igm and iga

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en:t regulatory cells show poor function

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en:staphylococcus aureus infection

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en:severe combined immunodeficiency

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en:serum igg autoantibodies to granulocyte/macrophage colony-stimulating factor (gm-csf, csf2, 138960)

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en:relatively increased number of natural killer cells

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en:recurrent infections (in some patients)

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en:recurrent infections, bacterial, viral, fungal, myobacterial

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en:no response to pneumococcal vaccination

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en:normal t cells

•

en:normal t-cell numbers

•

en:normal or reduced numbers of b cells

•

en:monocytopenia

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en:mildly decreased proliferative responses of t cells

•

en:poor production of certain cytokines (il-12, gamma-interferon, il-10, il-6, tnf-alpha) after stimulation

•

en:increase in certain cytokines (il4, il5, il13, il17) upon stimulation

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en:decreased numbers of mature b cells

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en:increased susceptibility to infections (bacterial, fungal, and viral)

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en:recurrent infections (in severe cases)

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en:reduced/absent cd3+ t cells

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en:binucleated lymphocytes

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en:cellular immunodeficiency

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en:decreased memory t cells

•

en:poor differentiation and proliferation of b and t cells

•

en:decreased numbers of natural killer cells (nk)

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en:defective il21r-related signaling

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en:defect in v(d)j recombination process

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en:delayed wound healing with normal immune system

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en:dermatophytic lymphadenitis (in some patients)

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en:igm deficiency

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en:increased ig

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en:normal number of b cells

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en:hypoplastic thymus which often lacks hassal corpuscles

•

en:increased serum ige

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en:lymphoid hyperplasia

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en:lymph nodes show reactive follicular hyperplasia and non-caseating granulomas

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en:markedly reduced t cell function

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en:neonatal sepsis

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en:recurrent bacterial skin infections

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en:normal or elevated numbers of functional natural killer cells (nk)

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en:primary immune deficiency disorder

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en:qualitative abnormality of granulocyte

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en:henoch-schoenlein purpura

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en:recurrent infections (pulmonary, skin, teeth)

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en:recurrent infections due to ciliary dysfunction

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en:reduced number of ct4+ t cells (in some patients)

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en:serratia marcescens infection

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en:humoral deficiency (likely result of t-cell abnormalities)

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en:absent mitogenic response to staphylococcus aureus cowan antigen (sac)

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en:fulminant infectious mononucleosis

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en:childhood-onset systemic lupus erythematosus

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en:absence of cd3+ t cells (1 family)

•

en:t-lymphocytopenia

•

en:altered t-cell regulation

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en:antinuclear antibody present, speckled pattern

•

en:autoantibodies (in some patients)

•

en:b-cell lymphopenia (in some patients)

•

en:biopsy shows lipid-laden macrophages

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en:chronic noninfectious lymphadenopathy

•

en:few mature neutrophils in the bone marrow

•

en:decreased cd3+ cells subset

•

en:decreased circulating nk cells

•

en:decreased cytotoxic activity of cd8+ t cells

•

en:decreased nk levels (in some patients)

•

en:decrease in granulocyte-specific cd16b (610665) isoform

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en:developmental arrest of b cells at the pre-b to pro-b cell transition stage

•

en:elevated immunoglobulins, particularly ige

•

en:systemic lupus erythematosus (in rare mutation carriers unaffected by a hematologic malignancy)

•

en:severe viral infections

•

en:variably decreased serum iga, igg, and igm

•

en:recurrent infections (pneumonia, sinusitis, fulminant varicella)

•

en:lymphadenopathy (cervical, inguinal, axillary)

•

en:lymphadenopathy in late phase

•

en:lymphopenia, progressive

•

en:lymphoproliferation

•

en:no clinical signs of immunodeficiency

•

en:poor antigen specific t-cell proliferation

•

en:progressive loss of antibodies

•

en:reduced levels of cells with igm receptors

•

en:increased susceptibility to certain viral infections

•

en:sarcoidosis (in rare mutation carriers unaffected by hematologic malignancy)

•

en:septicemia

•

en:serum autoantibodies

•

en:severely reduced response to mitogens

•

en:very low b cells

•

en:systemic inflammatory response (in some patients)

•

en:vasculitis

•

en:increased susceptibility to streptococcus pneumoniae infections

•

en:normal or elevated lymphocytes

•

en:il6 continuously elevated (in some patients)

•

en:decreased serum complement factor b (cfb, 138470)

•

en:immune response

•

en:absence of bactericidal oxidative 'respiratory burst' in phagocytes

•

en:hypocomplementemia (in some patients)

•

en:allergic to dogs

•

en:angioedema

•

en:aspergillus infections

•

en:decreased cd3 complex

•

en:absent humoral immunity

•

en:decreased t-cell proliferative response to mitogens

•

en:humoral defect (in some)

•

en:elevated il8 (146930)

•

en:elevated levels of serum ige

•

en:food allergies (in some patients)

•

en:foot infections leading to amputation

•

en:hemophagocytosis (in some patients)

•

en:defective complement regulation

•

en:increased cd21+ (low) b cells

•

en:increased iga level

•

en:intrinsic b cell defect

•

en:lack of circulating dendritic cells

•

en:lack of peripheral cd3+ t cells

•

en:low-absent igg, iga

•

en:normal b cell function

•

en:lymphadenopathy may occur

•

en:lymph nodes are small and poorly developed

•

en:natural killer cells, reduced numbers and cytotoxicity

•

en:no immunologic abnormalities

•

en:overproduction by t lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha

•

en:poor antibody response

•

en:immunodeficiency, primarily affecting b cell line

•

en:immunoglobulin deficiency (iga, igg, igm)

•

en:reduced delayed hypersensitivity

•

en:igm immunodeficiency (in some patients)

•

en:c1q deficiency

•

en:fertility immunology

•

en:transplantation immunology

•

en:absent delayed hypersensitivity skin test

•

en:activated mononuclear phagocytes

•

en:arthritis

•

en:b and t cell defects (reported in 2 sibs)

•

en:c2 deficiency

•

en:hypogammaglobulinemia (1 patient)

•

en:candida albicans infections, chronic, recurrent

•

en:decreased b cell survival and tolerance

•

en:decreased circulating class-switched memory b cells (cd19+cd27+igd-)

•

en:decreased memory b cells

•

en:decreased numbers of b cells

•

en:granulomas can appear on skin, tongue, lungs, or other tissues

•

en:hemophagocytic syndrome (hs) characterized by acute onset of uncontrolled t-lymphocyte and macrophage activation

•

en:primary combined immunodeficiency (1 patient)

•

en:absent t lymphocytes

•

en:reduced production of interleukin 2 by mitogen stimulated blood lymphocytes

•

en:maturational arrest of granulocytes at the promyelocyte/myelocyte stage seen on bone marrow biopsy

•

en:impaired antibody production (in some patients)

•

en:impaired production of il17

•

en:increased susceptibility to haemophilus influenzae infections

•

en:increased transitional b cells

•

en:increase in cd16+ activated granulocytes

•

en:low nk cells

•

en:normal-elevated igm

•

en:granulomatous disease (in rare mutation carriers unaffected by a hematologic malignancy)

•

en:normal numbers of cd19+ b-lymphocytes

•

en:peripheral lymphopenia

•

en:recurrent neisserial infections

•

en:recurrent staphylococcus aureus infections

•

en:selective iga immunodeficiency

•

en:t-cell dysfunction, variable (in some patients)

•

en:hypogammaglobulinemia (in some patients)

•

en:moderately elevated ige

•

en:granulomas, non-infectious

•

en:absence of humoral and cellular immune response to foreign antigens

•

en:erythrophagocytosis in late phase

•

en:sepsis

•

en:serum circulating immune complexes contain galactose-deficient iga1

•

en:serum immunoglobulins may be absent, normal, or increased

•

en:susceptibility to infection by mycobacterium leprae causing leprosy

•

en:neoplasm/cancer immunology

•

en:cancer immunology

•

en:secondary respiratory infections

•

en:continuous activation of the alternative complement pathway

•

en:decreased alpha-beta cd8+ t cells (family b)

•

en:decreased b cells (family b)

•

en:decreased circulation t cells

•

en:decreased nk cells (in some patients)

•

en:decreased numbers of circulating nk cells (less than 5%)

•

en:absence of pus formation at site of infection

•

en:impaired lymphocyte apoptosis

•

en:normal or decreased numbers of circulating b cells

•

en:increased number of peripheral cd3+ t cells

•

en:increased susceptibility to bacterial infections

•

en:increased susceptibility to ebv infection

•

en:low t-cell function

•

en:lymphadenopathy, generalized (in some patients)

•

en:marked reduction in cd4+/cd8+ ratio (in some patients)

•

en:normal number of natural killer cells

•

en:presence of c3 nephritic factor autoantibody

•

en:no antibodies to intrinsic factor

•

en:positive anti-nucleus antibodies

•

en:post-vaccination varicella (in 1 patient)

•

en:recurrent bacterial and viral infections

•

en:recurrent upper respiratory tract infection

•

en:reduction of mature b cells

•

en:severely reduced response to candida and tetanus toxoid antigens

•

en:susceptibility to bacterial infections due to poor skin integrity

•

en:severe enteroviral infections

•

en:molecular immunology

•

en:immunoglobulin a decreased

•

en:autoimmune features (in some patients)

•

en:antigens

•

en:immunity

•

en:immunohematology

•

en:t-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis

•

en:absence of acetylcholine receptor (achr) autoantibodies

•

en:absent t cells

•

en:allergy to eggs

•

en:atopic disorders (eczema, food allergy, asthma)

•

en:bone marrow shows lymphoid hyperplasia

•

en:igg deficiency

•

en:decreased cd4+ and cd3+/cd4+ lymphocytes

•

en:decreased numbers of nk cells

•

en:decreased or absent beta-2-microglobulin

•

en:decreased or absent pre-b cells

•

en:defective cd95-induced apoptosis of peripheral blood lymphocytes

•

en:disseminated candidiasis

•

en:frequent bacterial, viral, and opportunistic infections

•

en:hyperglobulinemia

•

en:susceptible to vaccine-induced polio

•

en:increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors

•

en:transient iga deficiency (1 patient)

•

en:polymorphonuclear leukocytosis, episodic

•

en:markedly depressed t lymphocyte proportion

•

en:markedly reduced cd3+ proportion

•

en:normal cell mediated immunity

•

en:normal immune profile

•

en:normal numbers of absolute b cells

•

en:no evidence of prenatal infection

•

en:opportunistic infections include nocardia asteroides and mycobacterium avium complex

•

en:polyclonal b-cell lymphocytosis

•

en:poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity

•

en:lack of peripheral lymphoid tissue

•

en:positive antinuclear autoantibodies

•

en:recurrent fungal infections

•

en:recurrent infections in infancy and early childhood

•

en:recurrent respiratory infections

•

en:reduced numbers of memory b cells

•

en:susceptibility to chickenpox

•

en:variable degree of t cell dysfunction

•

en:developmental immunology

•

en:lupus-like syndrome (in some patients)

•

en:reduced cd4 t-lymphocyte counts

•

en:infectious mononucleosis

•

en:decreased circulating naive t cells (1 family)

•

en:increased percentage of naive t cells

•

en:abnormal b cell function

•

en:asthma

•

en:immunogenetics

•

en:b cells lack surface cd20 expression

•

en:combined variable immunodeficiency involving b and t cells

•

en:decreased cd3(-)cd16/15(+) natural killer cells

•

en:decreased circulating cd4+ t cells

•

en:autoimmune disorders (in some patients)

•

en:decreased cytotoxic t cell activity

•

en:immune deficiency (in some patients)

•

en:decreased natural killer cells

•

en:impaired t cell activation

•

en:increased number of circulating lymphocytes

•

en:impaired survival of mature t cells

•

en:giant germinal centers in lymph nodes

•

en:depleted cd4+ t cells

•

en:defective nk function in spontaneous cellular cytotoxicity

•

en:decreased serum complement c3

•

en:hyper iga (in some patients)

•

en:impaired b-cell differentiation

•

en:impaired t-cell proliferation to certain stimuli

•

en:increased igm level

•

en:increased proportion of cd19+ b cells

•

en:increased susceptibility to systemic infections, particularly mycobacteria, candida, and salmonella

•

en:normal levels of igm, iga, and igg

•

en:serum iga, igg, and ige severely deficient

•

en:normal or increased igm

•

en:no evidence of intrauterine or perinatal infection

•

en:recurrent cutaneous mycoses

•

en:vacuolated lymphocytes

•

en:variable deficit of tissue macrophages

•

en:immunophenotyping

•

en:clinical immunology

•

en:herpes simplex virus infection, mucocutaneous

•

en:cow milk allergy

•

en:foot ulcer

•

en:autoantibodies, transient

•

en:neuroimmunology

•

en:immunoregulation

•

en:absolute lymphocyte count decreased

•

en:acetylcholine receptor (achr) autoantibodies are found in a subset of patients

•

en:associated with autoantibodies to gad65 (anti-glutamic acid decarboxylase gad2, 138275) in serum and/or cerebrospinal fluid

•

en:association with autoimmune diseases

•

en:complement component consumption

•

en:elevated il6 (147620)

•

en:decreased cell surface expression of mhc-i

•

en:decreased circulating b cells (total cd19+)

•

en:decreased differentiated b cells

•

en:decreased nk cells, particularly nk cell precursors

•

en:decreased serum complement c3 (120700)

•

en:decreased t cell-dependent antibody production

•

en:defective il10 production by t cells

•

en:infectious disease immunology

•

en:frequent bacterial, viral, protozoan, and fungal infections

•

en:absent peripheral blood t cells

•

en:lymphohistiocytic infiltration and hemophagocytosis in multiple organs

•

en:increased susceptibility to mycobacteria and intracellular bacteria

•

en:lack of cd27 expression on lymphocytes

•

en:leukocytosis

•

en:loss of or marked reduction of v(d)j recombination activity

•

en:low igg in adolescence (2 of 4 affected individuals)

•

en:low levels of antibodies to s. pneumoniae, h. influenzae type b

•

en:normal or elevated number of peripheral blood b cells

•

en:increased number of cd4(-)cd8(-)tcr-alpha-beta(+) t cells

•

en:precipitated by infection (influenza a, influenza b, mycoplasma, hhv6)

•

en:recurrent cutaneous and systemic pyogenic infections

•

en:reduced number of naive t cells (in some patients)

•

en:susceptibility to infections

•

en:t-cell hyporesponsiveness (in some patients)

•

en:thyroid hormone deficiency (1 patient)

•

en:absent sialyl-lewis x ligand (slex) expression

•

en:increased percentage of naive b cells

•

en:elevated igd

•

en:antinuclear antibody present (in some patients)

•

en:absent type 1 nk t cells

•

en:abundant cd4+ t cells

•

en:activated hla dr+ t cells in peripheral blood

•

en:activated t-helper cells

•

en:activation of the complement system

•

en:dysfunctional nk cells

•

en:antigenically defective c8 detected

•

en:associated with serum autoantibodies to glra1 (glycine receptor alpha-1 subunit 138491, reported in 1 patient)

•

en:autoantibodies (anti-nuclear, anti-dsdna, anti-cardiolipin)

•

en:autoimmune diseases

•

en:autoimmunity to pancreatic beta cells (rare)

•

en:autoinflammation, systemic

•

en:decreased t cell production of cytokines

•

en:defective response of b and t cells to activation

•

en:dermatomyositis

•

susceptibilité accrue à l'encéphalite herpétique

•

encéphalite

•

en:increased

•

susceptibilité

•

susceptibilité accrue

◀

‹

831

en:b-cell lymphocytosis, b-cell, polyclonal

•

en:decreased lymphocyte apoptosis

•

en:autoimmunity (rare)

•

en:low t cells

•

en:susceptibility to infection with influenza a infection

•

en:normal serologic immunoglobulin production to vaccination

•

en:systemic lupus erythematosus (in some patients)

•

en:immunologic and autoimmune evaluation unremarkable

•

en:impaired production of il17

•

en:increased susceptibility to mycobacteria and intracellular bacteria

•

en:impaired interferon production

•

en:progressive loss of antibodies

•

en:increased susceptibility to candidal infections

•

en:increased nonspecific cd8+ t-cell proliferation

•

en:immune deficiency (in some patients)

•

en:absent type 1 nk t cells

•

en:absent mucosal associated invariant t cells

•

en:periodic fevers (in some patients)

•

en:increase in tlr2+ (603028)/tlr4- (603030) granulocytes

•

en:decrease in granulocyte-specific cd16b (610665) isoform

•

en:b-cell lymphopenia (in some patients)

•

en:elevated il8 (146930)

•

en:decreased alpha-beta cd8+ t cells (family b)

•

en:markedly elevated iga

•

en:increased susceptibility to certain viral infections

•

en:candida albicans infections, chronic, recurrent

•

en:granulomatous disease (in rare mutation carriers unaffected by a hematologic malignancy)

•

en:t-cell lymphopenia

•

en:increased susceptibility to virus (in some patients)

•

en:increased igm levels, polyclonal

•

en:elevated il6 (147620)

•

en:bone marrow shows deficient granulopoiesis

•

en:autoimmune disease resembling systemic lupus erythematosus (sle, 152700) (in about 26%)

•

en:systemic lupus erythematosus (in rare mutation carriers unaffected by a hematologic malignancy)

•

en:decreased b cells (family b)

•

en:lack of peripheral lymphoid tissue

•

en:autoinflammation

•

en:increased susceptibility to systemic infections, particularly mycobacteria, candida, and salmonella

•

en:impaired antibody production (in some patients)

•

susceptibilité accrue à l'encéphalite herpétique

•

infection généralisée

•

en:defective humoral response

•

en:defective macrophage function

•

en:defective il21r-related signaling

•

en:defective antigen-specific skin response

•

en:defective complement regulation

•

en:defective cd8+ t cell function

•

en:defective b cell class-switching

•

en:defective nk function in spontaneous cellular cytotoxicity

•

en:defective neutrophil adhesion to endothelial cells

•

en:delayed wound healing with normal immune system

•

en:defective response of b and t cells to activation

•

en:defective t cell function

•

en:defect in v(d)j recombination process

•

en:defective antibody production

•

en:depleted cd4+ t cells

•

en:dermatomyositis

•

en:dermatophytic lymphadenitis (in some patients)

•

en:diminished proliferative response of t cells to allogenic cells, mitogens, and antigens

•

en:disseminated infection with dimorphic fungi (coccidioides and histoplasma)

•

en:dysfunctional nk cells

•

en:defective antibody production against polysaccharide-based vaccines

•

en:decreased nk cells (in some patients)

•

en:decreased t cell response to mitogens

•

en:decreased number of tcr alpha/beta+ t cells

•

en:decreased neutrophil and monocyte migration and chemotaxis

•

en:elevated igd

•

en:decreased numbers of b-cell precursors seen in bone aspirate

•

en:decreased numbers of circulating nk cells (less than 5%)

•

en:decreased numbers of mature b cells

•

en:decreased numbers of natural killer cells (nk)

•

en:decreased numbers of thymus emigrant cells

•

en:decreased number of cd4+ t cells

•

en:decreased or absent il12r-beta-1 expression on t cells

•

en:decreased t cell production of cytokines

•

en:decreased or normal numbers of nk cells

•

en:decreased percentage of igd- igm- cd27+ class-switched memory b cells

•

en:decreased serum complement c3

•

en:decreased serum complement factor b (cfb, 138470)

•

en:decreased serum complement factor i

•

en:decreased serum igg and igm

•

en:decreased specific antibodies

•

en:decreased t-cell proliferative response to mitogens

•

en:decreased t cells

•

en:ectopic thymus

•

en:humoral defect (in some)

•

en:elevated levels of serum ige

•

en:immune dysregulation

•

en:hypersensitivity

•

en:hypocomplementemia (in some patients)

•

en:hypogammaglobulinemia, profound

•

en:hypogammaglobulinemia (in some patients)

•

en:hypoimmunoglobulinemia

•

en:igg, decreased

•

en:igm deficiency

•

en:il6 continuously elevated (in some patients)

•

en:immunodeficiency, severe combined (in some patients)

•

en:hyperinflammatory state

•

en:immunodeficiency syndrome

•

en:immunoglobulin a deficiency (disorder)

•

en:impaired antiviral response to alpha- and beta-interferon signaling

•

en:impaired b cell class-switching

•

en:impaired cellular and humoral immunity

•

en:impaired ig class switch recombination

•

en:impaired lymphocyte proliferation response to malignancy

•

en:impaired seroconversion of immunoglobulins in response to vaccination

•

en:impaired survival of mature t cells

•

en:hyperplasia of tonsils

•

en:hyperglobulinemia, polyclonal (in some patients)

•

en:enterovirus infections

•

en:generalized enlarged lymph nodes

•

en:erythrophagocytosis in late phase

•

en:evidence of ebv infection

•

en:extrahepatic reticuloendothelial system spared

•

en:food allergies (in some patients)

•

en:foot infections leading to amputation

•

en:frequent bacterial, fungal and viral infections

•

en:frequent bacterial, viral, protozoan, and fungal infections

•

en:frequent illnesses

•

en:frequent infections t-lymphocyte dysfunction, rare

•

en:giant germinal centers in lymph nodes

•

en:hypergammaglobulinemia (in some patients)

•

en:granulomas, non-infectious

•

en:hashimoto disease

•

en:hemolytic anemia (in some patients)

•

en:hemophagocytosis (in some patients)

•

en:hemophagocytosis in bone marrow and lymph nodes

•

en:herpesviridae infections

•

en:histology shows large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen

•

en:decreased memory t cells

•

en:hypereosinophilia

•

en:decreased natural killer cells

•

en:continuous activation of the alternative complement pathway

•

en:decreased memory b cells, progressive

•

en:abundant cd4+ t cells

•

en:absent cellular immunity

•

en:absent humoral immunity

•

en:absent mitogenic response

•

en:absent or reduced cd3+ cells

•

en:absent or small dysplastic thymus

•

en:absent peripheral blood t cells

•

en:absent sialyl-lewis x ligand (slex) expression

•

en:absent t lymphocytes

•

en:activated hla dr+ t cells in peripheral blood

•

en:absence of pus formation at site of infection

•

en:activated t-helper cells

•

en:activation of the complement system

•

en:allergic to dogs

•

en:alpha/beta, cd4-/cd8- t cells are minimally or not increased

•

en:angioedema

•

en:antigenically defective c8 detected

•

en:antinuclear antibody present (in some patients)

•

en:approximately 60% of patients have anti-gad65 antibodies

•

en:arrest of b cell development at very early stage

•

en:absent b lymphocytes in all organs

•

en:absence of lymph node germinal center

•

en:associated with autoimmune disorders (e.g., diabetes mellitus, thyroiditis, pernicious anemia, vitiligo)

•

en:clinical immunology

•

en:antibodies

•

en:developmental immunology

•

en:immune response

•

en:immunogenetics

•

en:immunophenotyping

•

en:immunotoxicity

•

en:neoplasm/cancer immunology

•

en:pregnancy immunology

•

en:cancer immunology

•

en:infectious disease immunology

•

en:absence of humoral and cellular immune response to foreign antigens

•

en:neuroimmunology

•

en:abnormality of b cell physiology

•

en:abnormality of t cells

•

en:abnormal b cell function

•

en:abnormal immunoglobulin level

•

en:abnormal ratios of cd4+ helper t cells

•

en:abscess formation in any organ

•

en:absence of anti-thyroid antibodies

•

en:absence of bactericidal oxidative 'respiratory burst' in phagocytes

•

en:aspergillus infections

•

en:associated with serum autoantibodies to glra1 (glycine receptor alpha-1 subunit 138491, reported in 1 patient)

•

en:decreased levels of naive t cells

•

en:decreased cd8+ cells subset

•

en:congenital absence of thymus

•

en:impaired t cell immunity

•

en:cutaneous anergy

•

en:decreased cd19+ b cells

•

en:decreased cd3(-)cd16/15(+) natural killer cells

•

en:decreased cd3 complex

•

en:decreased cd4+cd45ra+ t cells

•

en:decreased cd4+ cells subset

•

en:decreased cellular caspase-8 levels

•

en:combined immunodeficiency (reported in 1 patient)

•

en:decreased circulating b cells

•

en:decreased circulating cd4+ t cells

•

en:decreased circulating naive t cells (1 family)

•

en:decreased circulation t cells

•

en:decreased cytotoxic t cell activity

•

en:decreased effector t cells

•

en:decreased iga, plasma and secretory

•

en:decreased immunoglobulins, progressive

•

en:decreased invariant nk t cells

•

en:combined variable immunodeficiency involving b and t cells

•

en:circulating t and b cells are naive

•

en:asthma

•

en:binucleated lymphocytes

•

en:autoantibodies

•

en:autoantibodies (anti-nuclear, anti-dsdna, anti-cardiolipin)

•

en:autoimmune diseases

•

en:autoimmune disorders (in some patients)

•

en:autoimmune neutropenia (less common)

•

en:autoimmunity to pancreatic beta cells (rare)

•

en:autoinflammation, systemic

•

en:b-cell lymphocytosis

•

en:b-cell lymphopenia

•

en:block at the pro-b to pre-b stage of differentiation

•

en:chronic viral infections (1 patient)

•

en:burkholderia cepacia infection

•

en:b cells lack surface cd19 and cd81 expression

•

en:b cells lack surface cd20 expression

•

en:c1q molecule present, but dysfunctional

•

en:c8 deficiency

•

en:candidiasis, chronic mucocutaneous

•

en:cd4/cd8 ratio decreased

•

en:cellular immunodeficiency

•

en:chronic human papillomavirus (hpv) infection

•

en:impaired t cell activation

•

en:increased transitional b cells

•

en:impaired t cell proliferative response

•

en:recurrent meningococcal disease

•

en:recurrent infections, bacterial, viral, fungal, myobacterial

•

en:recurrent infections, particularly herpes viral

•

en:recurrent infections (1 patient)

•

en:recurrent infections (increased susceptibility to mycobacterial infection after bcg immunization)

•

en:recurrent infections (in some patients)

•

en:recurrent infections (pneumonia, sinusitis, fulminant varicella)

•

en:recurrent infections at variable sites (sinusitis, otitis media, facial cellulitis, adenitis, blepharitis, conjunctivitis, gastroenteritis)

•

en:recurrent infections in infancy and early childhood

•

en:recurrent neisserial infections

•

en:recurrent febrile illnesses

•

en:recurrent respiratory infections

•

en:recurrent severe infections

•

en:recurrent skin and respiratory infections

•

en:recurrent staphylococcus aureus infections

•

en:recurrent viral infection

•

en:reduced cd3+, cd4+, and cd8+ t-lymphocytes

•

en:reduced cd4+/cd8+ ratio with cd8+ predominance

•

en:reduced cd4 t-lymphocyte counts

•

en:reduced levels of cells with igm receptors

•

en:recurrent fungal infections

•

en:recurrent cutaneous and systemic pyogenic infections

•

en:reduced numbers of memory b cells

•

en:poor adhesion related functions, such as adhesion to endothelial cells, chemotaxis, and antibody-dependent cellular cytotoxicity

•

en:nut hypersensitivity

•

en:opportunistic infections

•

en:opportunistic infections include nocardia asteroides and mycobacterium avium complex

•

en:papillomavirus infections

•

en:partial t-cell lymphopenia

•

en:paucity of lymphoid tissue

•

en:peripheral lymphopenia

•

en:polyclonal b-cell lymphocytosis

•

en:polymorphonuclear leukocytosis, episodic

•

en:poor antigen specific t-cell proliferation

•

en:recurrent candidal infections

•

en:poor production of certain cytokines (il-12, gamma-interferon, il-10, il-6, tnf-alpha) after stimulation

•

en:poor t-cell mitogen response

•

en:positive antinuclear autoantibodies

•

en:precipitated by infection (influenza a, influenza b, mycoplasma, hhv6)

•

en:present but small tonsils

•

en:primary dysfunction of b-lymphocyte isotype switching and memory b-cell generation

•

en:pseudomonas infections

•

en:recurrent bacterial, viral, and fungal infections

•

en:recurrent bacterial infection

•

en:reduced natural killer cell cytotoxicity

•

en:reduced number of naive t cells (in some patients)

•

en:no immunodeficiency

•

en:usually precipitated by viral infection (influenza a, influenza b, parainfluenza ii, and mycoplasma pneumoniae)

•

en:t-lymphocyte deficiency

•

en:thrombocytopenia (in some patients)

•

en:thymoma

•

en:thyroid hormone deficiency (1 patient)

•

en:tnf continuously elevated (in some patients)

•

en:t cells may show impaired proliferative response to tetanus toxoid

•

en:t regulatory cells show poor function

•

en:undetectable igm and iga

•

en:variable (often increased) number of activated cd45ro+, dr+ circulating t cells

•

en:t-cell dysfunction, variable (in some patients)

•

en:variable autoimmune disorders

•

en:variable degree of t cell dysfunction

•

en:variably impaired t-cell proliferative responses

•

en:vasculitis

•

en:very low lymphocyte proliferation in response to mitogens and alloantigens

•

en:herpes simplex encephalitis, susceptibility to, 7

•

vitiligo

•

neuro-immunomodulation

•

neuroimmunomodulation

•

en:t-cell hyporesponsiveness (in some patients)

•

en:systemic inflammatory response (in some patients)

•

en:reduced t cell cytotoxicity

•

en:severely reduced response to mitogens

•

en:relatively increased number of natural killer cells

•

en:repeated invasive infections

•

en:sarcoidosis (in rare mutation carriers unaffected by hematologic malignancy)

•

en:selective iga immunodeficiency

•

en:septicemia

•

en:serum autoantibodies

•

en:serum complement decreased

•

en:serum igg autoantibodies to granulocyte/macrophage colony-stimulating factor (gm-csf, csf2, 138960)

•

en:severely reduced proliferative response to mitogens, antigens, and alloantigens

•

en:severe combined immunodeficiency

•

en:susceptibility to mycobacterial disease

•

en:severe viral infections

•

en:skin anergy to recall antigens

•

en:small lymph nodes

•

en:small or absent thymus, which contains poorly formed hassal corpuscles

•

en:some patients may have autoantibodies to factor h, resulting in functional factor h deficiency

•

en:staphylococcus aureus infection

•

en:susceptibility to chickenpox

•

en:susceptibility to infections

•

en:susceptibility to infection with human herpesvirus

•

en:no response to pneumococcal vaccination

•

en:no evidence of prenatal infection

•

en:inability to reject allogenic cells

•

en:low igg in adolescence (2 of 4 affected individuals)

•

en:kappa-chain deficiency

•

en:lack of acquired antibodies

•

en:lack of cd27 expression on lymphocytes

•

en:lack of circulating monocytes

•

en:leukocytosis

•

en:loss of or marked reduction of v(d)j recombination activity

•

en:low-normal iga levels

•

en:low igg

•

en:low levels of antibodies to s. pneumoniae, h. influenzae type b

•

en:infectious mononucleosis

•

en:low memory b cells

•

en:low nk cells

•

en:low specific antibody titers (e.g., tetanus, polio virus, mumps, rubella)

•

en:low to normal immunoglobulin levels

•

en:lupus-like syndrome (in some patients)

•

en:lymphadenitis

•

en:lymphadenopathy

•

en:lymphadenopathy (cervical, inguinal, axillary)

•

en:lymphadenopathy in late phase

•

en:invasive bacterial, viral, and mycobacterial infections

•

en:increase in proinflammatory cytokines

•

en:lymphohistiocytic infiltration and hemophagocytosis in multiple organs

•

en:increased percentage of naive b cells

•

en:increased alpha-interferon activity

•

en:increased circulating transitional b cells (cd19+cd38+igm+)

•

en:increased effector cd8+ t cells

•

en:increased ig

•

en:increased ige impaired nk cell activity

•

en:increased igm (1 patient)

•

en:increased levels of t cells bearing gamma/delta antigen receptor

•

en:increased number of cd4(-)cd8(-)tcr-alpha-beta(+) t cells

•

en:increased number of circulating lymphocytes

•

en:increased percentage of naive t cells

•

en:increase in certain cytokines (il4, il5, il13, il17) upon stimulation

•

en:increased proportion of hla dr+ and cd57+ t cells

•

en:increased serum ige, iga, igg

•

en:increased serum igm (in some patients)

•

en:increased susceptibility to haemophilus influenzae infections

•

en:increased susceptibility to infections (bacterial, fungal, and viral)

•

en:increased susceptibility to pneumocystis and cytomegalovirus infections

•

en:increased susceptibility to streptococcus pneumoniae infections

•

en:increase in b cells (in some patients)

•

en:increase in cd16+ activated granulocytes

•

en:lymphadenopathy subsequent to bcg vaccination

•

en:lymphoid depletion

•

en:no evidence of immunodeficiency

•

en:normal number of circulating lymphocytes

•

en:normal cell mediated immunity

•

en:normal immune profile

•

en:normal nk cells

•

en:normal numbers of absolute b cells

•

en:normal numbers of cd19+ b-lymphocytes

•

en:normal numbers of circulating t cells

•

en:normal numbers of lymphocytes

•

en:normal numbers of t and b cells

•

en:normal number of t cells

•

en:normal b-cell (cd19+) count

•

en:normal or elevated lymphocytes

•

en:normal or elevated number of peripheral blood b cells

•

en:normal or increased numbers of b cells

•

en:normal or reduced numbers of b cells

•

en:normal t-cell numbers

•

en:normal titers to t cell-dependent vaccines

•

en:normal t cells

•

en:no clinical signs of immunodeficiency

•

en:no concurrent parasitic infection

•

en:normal b cells

•

en:normal-elevated igm

•

en:lymphoid hypoplasia

•

en:maturational arrest of granulocytes at the promyelocyte/myelocyte stage seen on bone marrow biopsy

•

en:lymphopenia, progressive

•

en:lymphoproliferation

•

en:lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells

•

en:lymph node architecture severely altered: lack of follicles, depletion of lymphocytes, and increased proportion of interdigitating reticular cells and eosinophils

•

en:markedly depressed t lymphocyte proportion

•

en:markedly elevated ige

•

en:markedly reduced cd3+ proportion

•

en:markedly reduced numbers of natural killer cells

•

en:marked depletion of lymphoid tissues

•

en:mildly decreased proliferative responses of t cells

•

en:non-caseating granulomas (bone marrow and lymph nodes)

•

en:moderate-low complement c3

•

en:moderately elevated ige

•

en:monocytopenia

•

en:mycobacterium infections

•

en:myeloid proliferation

•

en:natural killer t cell count decreased

•

en:neutropenia

•

en:neutropenia (in some patients)

•

en:neutrophils show disorganized lysosomal compartments on ultrastructural analysis

•

en:immunology

•

en:vitiligo

•

en:very low b cells

•

en:defective production of nfkb1-dependent cytokines by white blood cells

•

en:defective b cell activation

•

en:defective b cell differentiation

•

en:defective cd95-induced apoptosis of peripheral blood lymphocytes

•

en:defective generation of somatic hypermutations (shm)

•

en:defective il10 production by t cells

•

en:defective intracellular signaling in lymphocytes

•

en:defective natural killer cell (nk) activation

•

en:defective neutrophil function

•

en:defective t-cell proliferative responses

•

en:defective antibody production, particularly t-cell-independent

•

en:defect in b-cell differentiation

•

en:deficient nk-cell mediated spontaneous and antibody-mediated cytotoxicity

•

en:dendritic cell cytopenia

•

en:depletion of components of the alternative complement pathway

•

en:dermatomyositis (in 1 patient)

•

en:developmental arrest of b cells at the pre-b to pro-b cell transition stage

•

en:disseminated candidiasis

•

en:dysfunctional alternative complement pathway

•

en:dysgammaglobulinemia

•

en:defective antibody response

•

en:decreased t cell proliferation

•

en:elevated immunoglobulins, particularly ige

•

en:decreased number of cd8+ t cells

•

en:decreased naive cd4+ and cd8+ t cells

•

en:decreased natural killer t cells

•

en:decreased nk cells, particularly nk cell precursors

•

en:decreased nk levels (in some patients)

•

en:decreased numbers of b cells

•

en:decreased numbers of long-term memory cd8+ t cells

•

en:decreased numbers of naive cd4+ and cd8+ t cells

•

en:decreased numbers of nk cells

•

en:decreased numbers of t cells

•

en:decreased or absent beta-2-microglobulin

•

en:decreased t cell activation

•

en:decreased or absent pre-b cells

•

en:decreased percentage of igd+ igm+ cd27+ memory b cells

•

en:decreased regulatory t cells

•

en:decreased serum complement c3 (120700)

•

en:decreased serum complement factor h (cfh, 134370)

•

en:decreased serum iga

•

en:decreased serum igm

•

en:decreased t-cell proliferative responses in vitro

•

en:decreased t cell-dependent antibody production

•

en:elevated iga (equal to or greater than 2.6g/l)

•

en:elevated polyclonal igd (equal to or greater than 100 iu/ml)

•

en:decreased memory b cells

•

en:immune defect due to a t cell deficit

•

en:varicella zoster infection

•

en:hyper iga (in some patients)

•

en:hypogammaglobulinemia

•

en:hypogammaglobulinemia (1 patient)

•

en:hypoglobulinemia result

•

en:hypoplastic thymus which often lacks hassal corpuscles

•

en:igg deficiency

•

en:igm immunodeficiency (in some patients)

•

en:immune disorder (in rare mutations carriers unaffected by a hematologic malignancy)

•

en:hyperinflammatory disorder

•

en:immunodeficiency, primarily affecting b cell line

•

en:immunodeficiency (in some patients)

•

en:immunoglobulin a decreased

•

en:immunoglobulin deficiency (iga, igg, igm)

•

en:immunologic evaluation unremarkable

•

en:impaired antiviral response to alpha-interferon signaling

•

en:impaired b-cell differentiation

•

en:impaired b cell memory cells

•

en:impaired cellular responses to certain cytokine pathways

•

en:hyperinflammatory state (in some patients)

•

en:hyperglobulinemia

•

en:environmental illness

•

en:generalized lymphohistiocytic infiltrates in late phase

•

en:escherichia coli infection

•

en:exaggerated cellular immune processes

•

en:few mature neutrophils in the bone marrow

•

en:food allergy

•

en:foot ulcer

•

en:frequent bacterial, viral, and opportunistic infections

•

en:frequent fungal, viral, and opportunistic infections

•

en:frequent infections in childhood

•

en:fulminant infectious mononucleosis

•

en:granulocyte dysfunction (1 patient)

•

en:hypergammaglobulinemia

•

en:granulomas can appear on skin, tongue, lungs, or other tissues

•

en:granuloma formation

•

en:hay fever

•

en:hemophagocytic syndrome (hs) characterized by acute onset of uncontrolled t-lymphocyte and macrophage activation

•

en:hemophagocytosis in bone marrow, lymph nodes, spleen, liver, and central nervous system

•

en:henoch-schoenlein purpura

•

en:herpes simplex virus infection, mucocutaneous

•

en:hla antigens cw6, b13, b17 associated with psoriasis

•

en:humoral deficiency (likely result of t-cell abnormalities)

•

en:decreased memory b cells (in some patients)

•

en:decreased lymphatic tissue (tonsil, thymus, mesenteric nodes, peyer patches)

•

en:impaired lymphocyte apoptosis

•

en:absent t cells

•

en:absent delayed hypersensitivity skin test

•

en:absent microvilli on the surface of peripheral blood lymphocytes

•

en:absent mitogenic response to staphylococcus aureus cowan antigen (sac)

•

en:absent natural killer cell cytotoxicity

•

en:absent or severely reduced numbers of b cells

•

en:absent peripheral blood b cells

•

en:absent plasma cells in all organs

•

en:absent specific antibody response

•

en:absolute lymphocyte count decreased

•

en:absent antibody production

•

en:acetylcholine receptor (achr) autoantibodies are found in a subset of patients

•

en:activated mononuclear phagocytes

•

en:activation of the alternative complement pathway and depletion of complement components

•

en:agammaglobulinemia

•

en:allergy to eggs

•

en:altered t-cell regulation

•

en:antibody-dependent cellular cytotoxicity of nk cells is unaffected

•

en:antinuclear antibody present, speckled pattern

•

en:antinuclear autoantibodies (in some)

•

en:absent cd8+ t cells

•

en:absence of pancreatic autoantibodies

•

en:arthritis

•

en:immunology, other

•

en:antigens

•

en:fertility immunology

•

en:immunity

•

en:immunohematology

•

en:immunoregulation

•

en:microorganism immunology

•

en:neuroimmunomodulation

•

en:psychoneuroimmunology

•

en:cellular immunology

•

en:molecular immunology

•

en:absence of lymph nodes (in 1 patient)

•

en:transplantation immunology

•

en:abnormality of humoral immunity

•

en:abnormally large monocytes with vacuoles

•

en:abnormal delayed hypersensitivity skin test

•

en:abnormal lymphocytic accumulation in non-lymphoid tissue

•

en:abscesses are 'cold,' lacking erythema, heat, and swelling

•

en:absence of acetylcholine receptor (achr) autoantibodies

•

en:absence of auto-antibodies to intrinsic factor or parietal cells

•

en:absence of cd3+ t cells (1 family)

•

en:armed macrophage

•

en:associated with autoantibodies to gad65 (anti-glutamic acid decarboxylase gad2, 138275) in serum and/or cerebrospinal fluid

•

en:decreased itk protein in lymphoid tissue

•

en:decreased cd4+ t cells

•

en:cow milk allergy

•

en:cytokine defects

•

en:decreased b cells

•

en:decreased b cell survival and tolerance

•

en:decreased cd27+ b cells

•

en:decreased cd3+ cells subset

•

en:decreased cd3 expression on t cells

•

en:decreased cd4+ and cd3+/cd4+ lymphocytes

•

en:decreased cd8+ t cells

•

en:complement component consumption

•

en:decreased cell surface expression of mhc-i

•

en:decreased circulating b cells (total cd19+)

•

en:decreased circulating class-switched memory b cells (cd19+cd27+igd-)

•

en:decreased circulating nk cells

•

en:decreased cytotoxic activity of cd8+ t cells

•

en:decreased differentiated b cells

•

en:decreased expression of neonatal fc receptor

•

en:decreased igm and igg2

•

en:decreased immunoglobulin g (igg)

•

en:congenital hypoplasia of thymus

•

en:combined variable immunodeficiency

•

en:associated with autoimmune disorders (systemic lupus erythematosus 152700 and hashimoto thyroiditis 140300)

•

en:block of b-cell differentiation

•

en:association with autoimmune diseases

•

en:atopic disorders (eczema, food allergy, asthma)

•

en:autoantibodies, transient

•

en:autoantibodies (in some patients)

•

en:autoimmune disease (in some patients)

•

en:autoimmune disorders (i.e., itp, juvenile rheumatoid arthritis (jra), hypothyroidism, crohn disease)

•

en:autoimmune features (in some patients)

•

en:autoinflammatory disorders

•

en:biopsy shows lipid-laden macrophages

•

en:bone marrow shows lymphoid hyperplasia

•

en:combined humoral and cellular immunodeficiency

•

en:b and t cell defects (reported in 2 sibs)

•

en:b cells lack surface cd19 expression

•

en:c1q deficiency

•

en:c2 deficiency

•

en:cd4+ t-cell lymphopenia

•

en:cells show impaired immunologic responses to immune stimulation

•

en:childhood-onset systemic lupus erythematosus

•

en:chronic noninfectious lymphadenopathy

•

en:circulating immune complexes

•

en:impaired immune responses

•

en:hyperproliferation of effector t cells

•

en:impaired nk cell degranulation (in some patients)

•

en:recurrent infections

•

en:primary immune deficiency disorder

•

en:properdin deficiency, x-linked

•

en:qualitative abnormality of granulocyte

•

en:recurrent bacterial and viral infections

•

en:recurrent bacterial skin infections

•

en:recurrent candida infections

•

en:recurrent cutaneous mycoses

•

en:recurrent fevers

•

en:recurrent infections, bacterial and fungal

•

en:presence of c3 nephritic factor autoantibody

•

en:recurrent infections, particularly to viruses and fungi

•

en:recurrent infections (enteritis, otitis, and urinary infection)

•

en:recurrent infections (in severe cases)

•

en:recurrent infections (otitis media and bacterial pneumonia)

•

en:recurrent infections (pulmonary, skin, teeth)

•

en:recurrent infections due to ciliary dysfunction

•

en:recurrent infections of mucosal surfaces

•

en:recurrent mycobacterial disease (bcg and m. tuberculosis)

•

en:recurrent opportunistic infections

•

en:primary combined immunodeficiency (1 patient)

•

en:post-vaccination varicella (in 1 patient)

•

en:recurrent sinopulmonary infections

•

en:often an infecting organism cannot be identified

•

en:normal thymus

•

en:normal to elevated igg

•

en:no antibodies to intrinsic factor

•

en:no concurrent allergies

•

en:no evidence of common prenatal infections

•

en:no evidence of intrauterine or perinatal infection

•

en:no immune defects reported

•

en:no immunologic abnormalities

•

en:no severe viral infections

•

en:opportunistic infections (cmv, pneumocystis, candida)

•

en:positive anti-nucleus antibodies

•

en:overproduction by t lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha

•

en:partially defective antibody production

•

en:patient cells show no gamma-interferon response to il12

•

en:perirectal abscess

•

en:polymorphic b cell lymphoproliferation

•

en:polysaccharide antibody response defect

•

en:poor antibody response

•

en:impaired production of interferon-gamma in response to mycobacterial infection

•

en:poor proliferative response of t lymphocytes to specific antigens

•

en:recurrent severe and invasive bacterial infections

•

en:recurrent staphylococcal and gram-negative infections

•

en:normal response to bacterial antigens

•

en:thymic hypoplasia or aplasia

•

en:specific antibody production very poor

•

en:susceptibility to bacterial infections due to poor skin integrity

•

en:susceptibility to ebv and cmv infections

•

en:susceptibility to infection by mycobacterium leprae causing leprosy

•

en:susceptible to vaccine-induced polio

•

en:t-cells show reduced cytotoxicity and reduced cytolytic granule exocytosis

•

en:t-cell dysfunction (1 patient)

•

en:t-lymphocytopenia

•

en:thymus hypoplasia (in some patients)

•

en:small lymph nodes, which lack paracortical regions

•

en:tissue biopsy shows granulomas

•

en:transient iga deficiency (1 patient)

•

en:t cell defect, mild to severe

•

en:undetectable/absent peripheral lymph nodes

•

en:upregulation of alpha-interferon-stimulated genes

•

en:vacuolated lymphocytes

•

en:variable antibody response to vaccination

•

en:variable deficit of tissue macrophages

•

en:variably decreased serum iga, igg, and igm

•

en:small thymus

•

en:slightly reduced neutrophil adherence

•

en:recurrent upper respiratory tract infection

•

en:relative t-cell anergy

•

en:reduced/absent cd3+ t cells

•

en:reduced cd3 t-lymphocyte counts

•

en:reduced cd4+ t cells

•

en:reduced delayed hypersensitivity

•

en:reduced natural killer cell activity

•

en:reduced natural killer cell number

•

en:reduced number of ct4+ t cells (in some patients)

•

en:reduced production of interleukin 2 by mitogen stimulated blood lymphocytes

•

en:reduction of mature b cells

•

en:residual rag1 and rag2 activity

•

en:sjogren's syndrome

•

en:secondary respiratory infections

•

en:sepsis

•

en:serratia marcescens infection

•

en:serum circulating immune complexes contain galactose-deficient iga1

•

en:serum iga, igg, and ige severely deficient

•

en:serum immunoglobulins may be absent, normal, or increased

•

en:severely reduced response to candida and tetanus toxoid antigens

•

en:severe b lymphocytopenia

•

en:severe enteroviral infections

•

en:normal serum immunoglobulin levels

•

en:poor differentiation and proliferation of b and t cells

•

en:normal or increased numbers of transitional b cells

•

en:isolated absence of cd8+ t cells

•

en:normal or increased igm

•

en:increased susceptibility to severe and frequent infections with staphylococcus aureus

•

en:increased total number of cd19+ b cells

•

en:increased t cell activation

•

en:increase in b cell number

•

en:increase in cd8+ t cells (in some patients)

•

en:increase in proinflammatory chemokines

•

en:intrinsic b cell defect

•

en:klebsiella infections

•

en:increased susceptibility to infections

•

en:lack of autoantibodies

•

en:lack of circulating dendritic cells

•

en:lack of peripheral cd3+ t cells

•

en:lack of thymus on ultrasound

•

en:leukopenia

•

en:low-absent igg, iga

•

en:low-to-absent igg, iga, ige

•

en:low igg and iga

•

en:low igg with antibody deficiency

•

en:increased susceptibility to mycobacterial infections

•

en:increased susceptibility to ebv infection

•

en:low naive t cells

•

en:increased iga level

•

en:impaired signaling through the t-cell receptor

•

en:impaired t-cell proliferation to certain stimuli

•

en:impaired t cell function

•

en:impaired t cell proliferation and activation

•

en:inability to mount antibody response to antigen

•

en:increased activated cd8+ t cells

•

en:increased cd21+ (low) b cells

•

en:increased delta-gamma cd8+ t cells (family b)

•

en:increased frequency of bacterial, viral, and fungal infections

•

en:increased ige level

•

en:increased susceptibility to certain bacterial infections, especially neisseria meningitidis

•

en:increased igm level

•

en:increased il6, episodic

•

en:increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors

•

en:increased number of peripheral cd3+ t cells

•

en:increased percentage of naive igd+ igm+ cd27- b cells

•

en:increased proportion of cd19+ b cells

•

en:increased serum ige

•

en:increased serum ige (1 patient)

•

en:increased susceptibility to bacterial infections

•

en:low levels of memory b cells

•

en:increased susceptibility to neisseria infections

•

en:low or normal serum immunoglobulins

•

en:normal igg, iga, igm, ige levels

•

en:neonatal sepsis

•

en:neutropenia (in most patients)

•

en:neutrophils show defective intracellular nadph oxidase production

•

en:nk cells showed unusual surface cd16 antibody reactions

•

en:non-malignant mixed lymphohistiocytic infiltration of the reticuloendothelial system

•

en:normal activity of natural killer cells

•

en:normal b-cell count

•

en:normal b cell function

•

en:normal levels of igm, iga, and igg

•

en:mycoses

•

en:normal numbers and function of t cells

•

en:normal numbers of b cells

•

en:normal numbers of cd56+ natural killer cells

•

en:normal numbers of immune cells

•

en:normal numbers of lymphocytes and nk cells

•

en:normal number of b cells

•

en:normal number of natural killer cells

•

en:low t-cell function

•

en:normal or elevated numbers of functional natural killer cells (nk)

•

en:natural killer cells, reduced numbers and cytotoxicity

•

en:normal or decreased numbers of circulating b cells

•

en:monocytosis

•

en:lymphopenia (1 family)

•

en:lymphadenitis subsequent to bcg vaccination (in 1 patient)

•

en:lymphadenopathy, generalized (in some patients)

•

en:lymphadenopathy (in some patients)

•

en:lymphadenopathy may occur

•

en:lymphocyte count normal

•

en:lymphohistiocytosis

•

en:lymphoid hyperplasia

•

en:lymphopenia

•

en:lymph nodes are small and poorly developed

•

en:monocytes show impaired motility

•

en:lymph nodes show reactive follicular hyperplasia and non-caseating granulomas

•

en:lymph node hyperplasia

•

en:markedly elevated ige levels

•

en:markedly reduced neutrophil motility

•

en:markedly reduced t cell function

•

en:marked reduction in cd4+/cd8+ ratio (in some patients)

•

en:mildly decreased or normal t-cell proliferative responses

•

en:mild to moderately reduced t cell count

•

en:moderately depressed antibody response to polysaccharide antigens

•

en:lupus erythematosus, systemic

•

absence de réponse spécifique d'anticorps

•

absence de production d'anticorps

•

rhume des foins

•

cytotoxicité absente des cellules tueuses naturelles

•

thymome

•

mycoses

•

vascularite

•

asthme

•

sepsis

•

leucopénie

•

absence d'expression de CD27 sur les lymphocytes

•

arthrite

•

réponse proliférative altérée des lymphocytes à la malignité

•

diminution de l'apoptose des lymphocytes

•

apoptose défectueuse induite par CD95 des lymphocytes du sang périphérique

•

signalisation intracellulaire défectueuse dans les lymphocytes

•

lymphocytes binucléés

•

diminution de la numération lymphocytaire absolue

•

septicémie du nouveau-né

•

absence de lymphocytes B dans tous les organes

•

absence de microvillosités à la surface des lymphocytes du sang périphérique

•

absence de lymphocytes T

•

septicémie néonatale

•

hypogammaglobulinémie

•

apoptose altérée des lymphocytes

•

absence de cellules B dans le sang périphérique

•

augmentation du nombre de lymphocytes circulants

•

proportion de lymphocytes T fortement diminuée

•

lymphocytes normaux ou élevés

•

nombres normaux de lymphocytes et de cellules NK

•

nombres normaux de lymphocytes

•

nombres normaux de lymphocytes B CD19+

•

nombre normal de lymphocytes circulants

•

dysfonctionnement primaire de la commutation isotypique des lymphocytes B et de la génération de cellules B mémoires

•

faible réponse proliférative des lymphocytes T aux antigènes spécifiques

•

réduction de la production d'interleukine 2 par les lymphocytes sanguins stimulés par des mitogènes

•

réduction de la numération des lymphocytes T CD4

•

réduction de la numération des lymphocytes T CD3

•

déficience en lymphocytes T

•

cellules T HLA DR+ activées dans le sang périphérique

•

absence de cellules T dans le sang périphérique

•

* % production

◀

Génériques

[F] [H]

›

en:increased

•

susceptibilité

•

susceptibilité accrue

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9092759 • caches: c1=8 c2=837 c3=832

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♥

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ta

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po

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