Term
| X-linked (Bruton's) agammaglobulinemia |
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Definition
B-cell d/o
D: Defected BTK (tyrosine kinase gene)--> no B-cell maturation
P:Recurrent bact. infx. after 6 mo, opsonize defect
F:nl pro-B, decr maturation/# b-cell/Ig all classes |
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Term
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Definition
B-cell d/o
MC immunodeficiency, unknown cause
P: Asympt. sinopulm infx, AI dz, Anaphylaxis to IgA-blood products
F: low IgA, rest nl. False-positive B-HCG tests due to heterophile Ab |
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Term
| Common variable immunodeficiency (CVID) |
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Definition
B-cell d/o
D: b-cell maturation
P: acquired in 20's, incr. AI/lymphoma/sinopulm infx
F: Nl # B-cells, decr. plasma cells/Ig's |
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Term
| Thymic Aplasia (DiGeorge) |
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Definition
T-cell d/o
D: 22q11 delete, failed 3/4 pharyngeal pouch
P: Tetany (hypocal), viral/fungal infx, heart and vessel defect
F: decr T-cell/PTH/Ca; absent thymic shadow |
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Term
| IL-12 receptor deficiency |
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Definition
T-cell d/o
D: decr Th1 response
P: disseminated mycobacterial infection
F: decr. IFN-g |
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Term
| Hyper-IgE syndrome (Job's) |
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Definition
T-cell d/o
D: Th1 fail to produce IFN-g --> no neutrophil chemotactic
P: FATED (facies, staph Abscesses, primary Teeth, incr IgE, Derm (eczema)
F: incr IgE |
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Term
| Chronic mucocutaneous candidiasis |
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Definition
T-cell d/o
D: T-cell dysfunction
P: Candida infx skin and mucouse
Tx: Ketoconazole |
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Term
| Severe combined immunodeficiency (SCID) |
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Definition
B/T cell d/o
D: Defect IL-2 receptor, adenosine deaminase deficiency
P: FTT, chr diarrhea, thrush, viral/bacterial/fungal/protozoan infx, no thymus/germinal center/b-cells
F: decr T-cell recomb excision circles (TRECs), no t-cell on cytometry; NK Cells INTACT |
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Term
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Definition
B/T cell d/o
D: defected ATM gene coding for DNA repair enzymes
P: Triad: cerebellar ataxia, spinder angiomas (telangect), IgA def. Poor smooth pursuit w/ eyes
F: Incr AFP, Incr. Lymphoma/acute leuk, X-ray sense, death~25yo |
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Term
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Definition
B/T cell d/o
D: CD40L defect on T-helper cells=inability to class switch
P: Severe pyogenic infx early life
F: Incr IgM, Decr IgG/IgA/IgA |
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Term
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Definition
B/T-cell d/o
D: WAS gene on X-chr. -> Tcell unable to reorganize actin cytoskel.
P: Triad: (TIE)Thrombocytopenia purpura, Infection, Eczema
F: Inc IgE/IgA, decr IgM; thrombocytopenia |
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Term
| Leukocyte adhesion deficiency (type I) |
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Definition
Phagocyte dysfunction
D: Defect LFA-1 integrin (CD18) protein on phagocytes
P: bacterial infx, absent pus, delayed umbilical cord
F: Neutrophilia |
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Term
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Definition
phagocyte dysfunction
D: AR, lysosomal traffick regulator (LYST),microtube dysfunc in phagosome-lysosome fusion
P:pyogenic infx staph/strep; albinisml periph neuropoathy
F: Giant granules in neutrophils |
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Term
| Chronic granulomatous disease |
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Definition
phagocyte dysfunction
D: lack NADPH oxidase, decr. reactive O2 species, absent respit burst in neutrophils
P: incr. catalase-positive organisms infx
F: abnl dihydrorhodamine (DHR) flow cytometry test; Nitroblue tetrazolium dye no blue-pig
Tx; Prophylax TMP-SMX, IFN-g |
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