Immuno deficiciencies Flashcards

1
Q

AD-HIES

A

Autosomal Dominant Hiper Ige syndrome

Elevated Serum IgE, Eczema, succeptibility to defined spectrum of pathogens

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2
Q

Opportunistic pathogens in AD-HIES

A

Lung and skin abcesses caused by S. aureus

Chronic mucocutaneous infections caused by C. albicans

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3
Q

Cause of HIES

A

Heterozygous LOF mutations in Stat3

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