Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome.

ABSTRACT:

Objective

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.

Methods

Seventy subjects aged five to 60 years with a molecular diagnosis of AD-HIES were evaluated at the National Institutes of Health (NIH). Data collection involved a GI symptom questionnaire and retrospective chart review.

Results

In our cohort of 70 subjects, we found that 60% had GI symptoms (42/70). The most common manifestations were gastroesophageal reflux disease (GERD) observed in 41%, dysphagia in 31%, and abdominal pai

SUBMITTER: Arora M 

PROVIDER: S-EPMC8171578 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature