A novel STAT3 mutation associated with hyper immunoglobulin E syndrome with a paucity of connective tissue signs.

Yoichiro Yoshida Tsunehisa NagamoriHironori TakahashiEmi IshibazawaSorachi ShimadaToshinao KawaiHiroshi Azuma

Published in: Pediatrics international : official journal of the Japan Pediatric Society (2021)

Autosomal dominant hyper IgE syndrome should, perhaps, be considered even if patients lack connective tissue signs, as long as hypersensitivity to infection and skin manifestations with hyper IgE are present.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
case report
prognostic factors
cell proliferation
soft tissue