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11 Cards in this Set

  • Front
  • Back
X linked recessive defect in tyrosine kinase gene-->
Bruton's agammaglobulinemia (pre B cells can't mature; recurrent bacterial infections after 6 months)
22q11 deletion assoc'd with?
DiGeorge syndrome
defect in early stem-cell differentiation, presents with recurrent viral, bacterial, fungal, and protozoal infextions
SCID (multiple causes, 1 of which might be adenosine deaminase deficiency)
IL-12 receptor deficiency--> ?
disseminated mycobacterial infections (no IL-12, no Th1 response)
X-linked defect in ability to mount IgM response to capsular polysaccharides of bacteria-->
Wiskott-Aldrich syndrome (also inc'd IgA, nl IgE, dec'd IgM; triad: recurrent pyogenic infxns, thrombocytopenic purpura, eczema)
what immune definiciency assoc'd with inc'd IgA, nl IgE, dec'd IgM?
Wiskott-Aldrich (Xlinked)
retained primary teeth, coarse facies, high IgE assoc'd with?
Job's syndrome (decd activation of mphages b/c helper T cells no make IFN-gamma; "cold" staph abscesses, eczema)
delayed separation of umbilicus + severe pyogenic and fungal infections?
Leukocyte adhesion deficiency syndrome (type 1-beta 2 integrin def; type 2--fucosyltransferase gene mutation-required for synth of sialyl-Lewis X, aka CD15s)
AR defect in microtubular formation with partial albinism =
Chediak Higashi dz (recurrent staph strep infxns, peripheral neuropathy)
negative nitroblue tetrazolium dye reduction test
Chronic granulomatous dz (lack of NADPH oxidase-->opportunistic bacterial infxns esp S.aureus and e.coli, Aspergillus)
IgA deficiency + spider angiomas
ataxia-telangiectasia (AR, defects in DNA repair enzymes, cerebellar problems)