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13 Cards in this Set
- Front
- Back
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Agammaglobulinemia gene, inheritance, defect, manifest |
BTK (TRK) XR defective B cell maturation -> decreased Ig Bacterial and enteroviral infection after 6 months |
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IgA deficiency at risk for? |
most common, low IgA, normal everything else asymptomatic higher atopy, autoimmune, anaphylaxis to transfusion |
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CVID |
B cell maturation defective acquire 20s-30s increased autoimmune disease, sinopulm, bronchiectasis, lymphoma decreased plasma cells, IgG |
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Thymic aplasia |
DiGeorge, 22q11 deletion - 3rd 4th pouches tetany from hypocalcemia, viral/fungal infections, heart defects low t cells, pth ca2+ |
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IL-12 R deficiency |
decreased Th1 response AR mycobacterial infection disseminated, fungal decreased IFN-gamma |
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Hyper IgE |
Th17 deficiency - stat3, impaired nphil recruitment FATED = facies, abscesses (cold staph), Teeth, IgE, Derm (eczema), increased IgE, low IFN-gamma |
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CMC |
T-cell dysfunction candida infections no cutaneous rxn to candida antigen |
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SCID |
IL-2R gamma (XR) Adenosine deaminase deficiency (AR) FTT, diarrhea, thrush, viral/bac/fungal/protozoal tx: BMT decreased T cell receptor excision circles no thymic shadow |
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Ataxia-telangiectasia |
ATM - can't repair ds breaks AAA: Ataxia (cerebellar), spider Angioma, IgA deficiency increased AFP, decreased IgA, IgG, IgE, lymphopenia, cerebellar atrophy |
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Hyper IgM |
defective CD40L on Th - can't class switch, actin cytoskeleton recognition WATER = Wiskott Aldrich, Thrombocytopenic purpura, Eczema, Recurrent infection increased autoimmune, malignancy decreased IgG, IgM increased IgE, IgA fewer/smaller platelets |
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LAD |
LFA-1 integrin - CD18 on phagos, impaired migration, chemotaxis AR bacterial skin and mucosal infection, impaired wound healing, delayed umbilical cord separation increased nphils, but not at infxn site |
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Chediak-Higashi |
lyso trafficking defect - LYST phago/lyso fusion dysfunction AR partial albinism, PN, neurodegen, lymphohistiocytosis giant granules in nphils and platelets pancyto coag defects |
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CGD |
NADPH oxidase = resp burst in nphils XR increased cat + infection PLACESS = pseudomonas, listeria, aspergillus, candida, e. coli, s aureus, serratia abnormal DHT, negative NBT |
