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29 Cards in this Set
- Front
- Back
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Defect: Bruton's agammaglobulinemia
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XLR deficiency of "Bruton's tyrosine kinase" ---> absent B cell maturation ---> absolute Ig deficiency
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Defect: Hyper-IgM syndrome
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Defective CD40L on CD4+ cells ---> unable to stimulate B cell class switching ---> hyper-IgM with very low IgG/IgA/IgE
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Defect: Selective Ig deficiency
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Impaired class switching
MC manifestation: IgA deficiency |
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Defect: Common variable immunodeficiency
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Congenital or acquired defect in B cell maturation into plasma cells
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Defect: IL-12 receptor deficiency
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IL-12 receptor deficiency ---> impaired Th1 differentiation ---> impaired macrophages, etc
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Defect: Hyper-IgE syndrome
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Defect in CD4+ cell production of IFN-gamma ---> impaired neutrophil chemotaxis
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Defect: Chronic mucocutaneous candidiasis
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T cell failure to generate cytokines necessary to fight off Candida infections
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Defect: SCID
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MCC: XLR IL-2 receptor defect ---> global T cell failure
Others: Adenosine deaminase deficiency MHC II deficiency |
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Defect: Ataxia-telangiectasia
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DNA repair defect affecting p53 ---> B and T cell dysfunction
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Defect: Wiskott-Aldrich
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XLR defect in B and T cell "Wiskott-Aldrich protein"
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Defect: Type 1 leukocyte adhesion deficiency
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Defect in LFA-1 integrin ---> impaired leukocyte migration
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Defect: Chediak-Higashi
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AR microtubule defect ---> impaired phagocytosis
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Defect: Chronic granulomatous disease
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NADPH oxidase deficiency
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Classic presentation: Bruton's agammaglobulinema
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Significant, recurrent otitis media, pneumonia, sinusitis, etc. beginning around 6 months of age when maternal IgG declines
Hypoplastic/absent tonsils/lymph nodes |
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Classic presentation: Hyper-IgM syndrome
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Severe, recurrent sinopulmonary and GI infections in infancy
Classically, Pneumocystis pneumonia with chronic diarrhea |
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Classic presentation: IgA deficiency
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Recurrent sinopulmonary, GI, and GU infections
Anaphylaxis on exposure to IgA (e.g. blood transfusion) |
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Classic presentation: Common variable immunodeficiency
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Recurrent infections with high risk of lymphoma and autoimmune disease
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Classic presentation: IL-12 receptor deficiency
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Disseminated mycobacterial infections
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Classic presentation: Hyper-IgE syndrome
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"FATED"
coarse Facies non-inflammatory Abscesses retained primary Teeth lots of Eosinophils Dermatologic findings e.g. eczema |
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Classic presentation: Chronic mucocutaneous candidiasis
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Recurrent thrush/diaper rash in infants
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Classic presentation: SCID
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Recurrent infections with viruses, bacteria, fungi, and protozoa
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Classic presentation: Ataxia-telangiectasia
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Classic triad:
Cerebellar disease ---> ataxia Spider angiomas ---> telangiectasia IgA deficiency ---> sinopulmonary infections |
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Classic presentation: Wiskott-Aldrich syndrome
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Classic triad:
Thrombocytopenia Eczema Recurrent infection |
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Classic presentation: Type 1 leukocyte adhesion deficiency
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Recurrent bacterials infections without pus
Delayed separation of the umbilical cord |
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Classic presentation: Chediak-Higashi
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Recurrent pyogenic Staph/Strep infections
Partial albinism Neuropathy |
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Classic presentation: Chronic granulomatous disease
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Serious, recurrent catalase + infections
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Diagnosis: Common variable immunodeficiency
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Normal B cell count but no plasma cells or Ig
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Diagnosis: IL-12 receptor deficiency
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Very low IFN-gamma
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Labs: Type 1 leukocyte adhesion deficiency
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Marked neutrophilia and generalized leukocytosis
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