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14 Cards in this Set
- Front
- Back
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X-linked recessive inheritance
normal pro-B cell levels, low mature B cells bacterial infections began after 6 months |
Bruton's agammaglobulinema
BTK defect: tyrosine kinase for forming pre-B cells |
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high IgM
severe pyogenic infections all other Igs low |
Hyper-IgM syndrome
CD40L defect --> no class swtiching |
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sinus/lung infections
milk allergies anaphylactic transfusion reaction |
selective Ig deficiency (usu. IgA)
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acquired in 20s or 30s
autoimmune disease lymphoma sinopulmonary infections normal B cell count low plasma cells and Ig |
CVID: common variable immune deficiency
defect in B cell maturation |
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tetany/hypocalcemia
CHD viral/fungal infections low T cells low PTH |
DiGeorge syndrome
thymic and parathyroid aplasia 22q11 delection |
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mycobacterial infections
low IFN-gamma |
IL-12 receptor deficiency
decreased Th1 response |
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coarse facies
cold Staph abscesses retained primary teeth increased IgE eczema |
Hyper-IgE syndrome
pailed IFN-gamma production --> impaired neutrophil response to chemokines |
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C. albicans infections of skin, mucous membranes
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chronic mucocutaneous candidiases
general T-cell dysfunction |
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viral, bacterial, fungal, and protozoal infections
absent thymic shadow no germinal centers on biopsy no B cells increased adenine levels |
SCID
defective IL-2 receptor (X-linked) adenosine deaminase deficiency failure of MHC II synthesis |
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cerebellar defects
spider angiomas IgA deficiency |
ataxia-telangectasia
defective ATM gene DNA repair enzymes |
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thrombocytopenic purpura
infections eczema X-linked recessive high IgE and IgA low IgM |
Wiskott-Aldrich syndrome
progressive deletion of B and T cells (cytoskeletal defect?) |
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delayed umbilical separation
absent pus recurrent bacterial infections neutrophilia |
Leukocyte adhesion defect I
defect in LFA-1 integrin (CD-18) |
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recurrent pyogenic strep and staph infections
partial albinism peripheral neuropathy |
Chedak-Higashi syndrome
AR; defect in lysosomal regulator trafficking gene (LYST) microtubule dysfunction in phagolysosome formation |
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increased susceptibility to catalase positive organisms: Staph, E. coli, Aspergillus
nitroblue tetrazolium dye reduction test is negative |
Chronic granulomatous disease
lack of NADPH oxidase --> lowered ROS and absent respiratory burst |
