May 17 Flashcards
1
Q
what mutation causes Job syhndrome?
A
STAT3
2
Q
path of job syndrome?
A
STAT3 mutation leads to Th17 cell deficiency and decreased IFNgamma production by t cells -> impaired neutrophil chemotaxis
3
Q
presentation of Job syndrome
A
-abscesses, recurrent sinopulmonary infections, eczema, coarse facial features, primary teeth retention, orthopedic probelms