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11 Cards in this Set
- Front
- Back
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hyper igm syndrom
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defective CD40L
inability to class switch B cells |
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bruton's x-linked agammaglobulinemia
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tyrosine kinase receptor mutation
blocks B-cell differentiation/maturation |
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CVID
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common variable immunodeficiency
b cells are unable to mature into plasma cells (absent immunoglobulins) culminates in lymphoma can also occur in the 20s, and be caused by EBV |
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DiGeorge syndrome
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thymic aplasia
associated with tetralogy of fallot and pulmonary fibrosis |
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SCID
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severe combined immunodeficiency disease
combined B and T cell defect ADA deficiency, RAg 1 and 2 mutation, or Jak-3 deficiency (Il2 receptor mutation) |
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wiskott-aldrich syndrom
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"WASP"
eczema, thrombocytopenia (bleeding), moderate decrease in T cells, decrease in IgM |
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ataxia telangiectasia
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cerebellar dysfunction, sclera telangiectasia
low IgA, higher rate of leukemia |
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Bare lymphocyte syndrome
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defect in formation/transport of MHC 1 and 2 to cell membrane
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chediak-higashi syndrome
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decrease azurophilic granule formation in neutrophils
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chronic granulomatous disease
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low NADPH
increased infections with catalase positive organisms |
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job syndrome
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hyper-IgE (cause low IgG and IgA)
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