Open AccessGastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome
Author(s) -
Manish Arora,
Preet Bagi,
Anna Strongin,
Jennifer Heimall,
Xiongce Zhao,
Monica G. Lawrence,
Apurva Trivedi,
Carolyn Henderson,
Amy P. Hsu,
Martha Quezado,
David E. Kleiner,
Aradhana M. Venkatesan,
Steven M. Holland,
Alexandra F. Freeman,
Theo Heller
Publication year - 2017
Publication title -
journal of clinical immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.739
H-Index - 96
eISSN - 1573-2592
pISSN - 0271-9142
DOI - 10.1007/s10875-017-0429-z
Subject(s) - medicine , eosinophilic esophagitis , esophagogastroduodenoscopy , gastroenterology , gerd , dysphagia , pathology , disease , surgery , reflux , endoscopy
STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. We sought to describe the gastrointestinal (GI) manifestations of this disease.