May 17 Flashcards

1
Q

what mutation causes Job syhndrome?

A

STAT3

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2
Q

path of job syndrome?

A

STAT3 mutation leads to Th17 cell deficiency and decreased IFNgamma production by t cells -> impaired neutrophil chemotaxis

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3
Q

presentation of Job syndrome

A

-abscesses, recurrent sinopulmonary infections, eczema, coarse facial features, primary teeth retention, orthopedic probelms

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