Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
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)
|
