<i>STAT3</i> Mutations in the Hyper-IgE Syndrome

M. Holland, Steven; R. DeLeo, Frank; Zghal Elloumi, Houda; P. Hsu, Amy; Uzel, Gülbû; N. Brodsky, Nina; F. Freeman, Alexandra; P. Demidowich, Andrew; Davis, Joie; L. Turner, Maria; Anderson, Victoria; Darnell, Dirk; A. Welch, Pamela; B. Kuhns, Douglas; M. Frucht, David; L. Malech, Harry; I. Gallin, John; D. Kobayashi, Scott; R. Whitney, Adeline; M. Voyich, Jovanka; M. Musser, James; Woellner, Cristina; A. Schäffer, Alejandro; M. Puck, Jennifer; Grimbacher, Bodo

doi:10.1056/nejmoa073687

Public

STAT3 Mutations in the Hyper-IgE Syndrome

Published in New England Journal of Medicine • Sep 19, 2007

Authors:

Steven M. Holland

Frank R. DeLeo

Houda Zghal Elloumi

Abstract

BACKGROUND: The hyper-IgE syndrome (or Job's syndrome) is a rare disorder of immunity and connective tissue characterized by dermatitis, boils, cyst-forming pneumonias, elevated serum IgE levels, retained primary dentition, and bone abnormalities. Inheritance is autosomal dominant; sporadic cases ar...

Subject

Immunoglobulin E

Primary immunodeficiency

Immunology

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