1. Bruton's agammaglobulinemia
    • X-linked recessive
    • Defect: BTK (tyrosine kinase); can't turn pro-B cells into pre-B Cells
    • Presentation: recurrent bacterial infections after 6 months
    • Labs: normal pro-B; Image Upload 1 B cells; Image Upload 2 immunoglobulins of all classes
  2. Hyper Ig-M syndrome
    • Defect: CD40L on helper T cells; B cells can't class switch
    • Presentation: severe pyogenic infections early in life
    • Labs: Image Upload 3IgM; Image Upload 4 IgG, IgA, IgE
  3. Selective Ig deficiency
    • Defect: isotype switching (IgA deficiency is most common)
    • Presentation: Sinus & lung infections, milk allergies, and diarrhea; anaphylaxis on exposure to IgA
    • Labs: Image Upload 5 IgA
  4. Common variable immunodeficiency
    • Defect: B-cell maturation; many causes
    • Presentation: can be acquired in 20s-30s; Image Upload 6 risk of autoimmune disease, lymphoma, sinopulmonary infections
    • Labs: normal B-cell number; Image Upload 7 plasma cells & Ig
  5. Thymic aplasia (DiGeorge syndrome)
    • Defect: 22q11 deletion; failure to develop 3rd and 4th pharyngeal pouches
    • Presentation: tetany; recurrent viral/fungal infections; congenital heart and great vessel defects
    • Labs: Image Upload 8 T-cells, Image Upload 9 PTH, Image Upload 10 Calcium, absent thymic shadow on CXR
  6. IL-12 receptor deficiency
    • Defect: decreased Th1 response
    • Presentation: disseminated mycobacterial infections
    • Labs: Image Upload 11 INF-Image Upload 12
  7. Hyper-IgE syndrome (Job's syndrome)
    • Defects: Th cells fail to produce INF-Image Upload 13; neutrophils can't respond to chemotactic stimuli
    • Presentation: coarse Facies, cold staphylococcal Abscesses, retained primary Teeth, Image Upload 14 IgE, Dermatologic problems (eczema) ; FATED
    • Labs: Image Upload 15 IgE
  8. Chronic mucocutaneous candidiasis
    • Defect: T cell dysfunction
    • Presentation: Candida albicans infections of skin and mucous membranes
  9. Severe combined immunodeficiency (SCID)
    • Defect: IL-2 receptor (most common, X linked); adenosine deaminase deficiency; failure to synthesize MHCII antigens
    • Presentation: recurrent viral, bacterial, fungal, and protozoan infections
    • Labs: absence of thymic shadow, germinal centers & B-cells
  10. Ataxia-telangiectasia
    • Defect: ATM gene which codes for DNA repair enzymes
    • Presentation: cerebellar defects, spider angiomas, IgA deficiency
    • Labs: IgA deficiency
  11. Wiskott-Aldrich syndrome
    • Defect: progressive deletion of B and T cells; X linked recessive
    • Presentation: thrombocytopenic purpura, infections, eczema (TIE)
    • Labs: Image Upload 16IgE, Image Upload 17IgA, Image Upload 18IgM
  12. Leukocyte adhesion deficiency (type 1)
    • Defect: LFA-1 integrin protein on phagocytes
    • Presentation: recurrent bacterial infections, absent pus formation, delayed separation of the umbilicus
    • Labs: neutrophilia
  13. Chediak-Higashi syndrome
    • Defect: lysosomal trafficking gene (LYST); microtubule dysfunction in phagosome-lysosome fusion
    • Presentation: recurrent pyogenic infections by staphylococci and streptococci, partial albinism, peripheral neuropathy
  14. Chronic granulomatous disease
    • Defect: lack of NADPH oxidase; absent respiratory burst
    • Presentation: increased susceptibility to catalase positive organisms (S. marcescens, S.aureus, Aspergillus, Candida albicans, E. coli -SSPACE)
    • Labs: negative Nitroblue tetrazolium dye reduction test
Card Set