Table of Contents

HK J Paediatr (New Series)
Vol 14. No. 1, 2009

HK J Paediatr (New Series) 2009;14:4-10

Original Article

Signal Transducer and Activator of Transcription 3 (STAT3) Gene Mutations in Two Patients with Hyperimmunoglobulin E Syndrome

IMS Tang, tL Lee, KW Chan, MHK Ho, PPW Lee, tNH Leung, YL Lau


Abstract

The autosomal dominant (AD) hyperimmunoglobulin E syndrome (HIES, Job syndrome) is a primary immunodeficiency with multiple systemic involvements. It is characterised by grossly raised serum immunoglobulin E (IgE) level with recurrent cutaneous and pulmonary infections, eczema, pneumatocoeles, dental and musculoskeletal problems. The occurrence of the classic triads, namely recurrent cold abscesses, pneumatocoele formation and raised serum immunoglobulin E should alert the clinicians on the diagnosis of HIES. Mutations in the signal transducer and activator of transcription 3 (STAT3) gene have been identified recently to be the cause of AD HIES. We report 3 patients with HIES, in whom 2 were found to have STAT3 gene mutations.

Keyword : Abscess; Hyperimmunoglobulin E syndrome; Job syndrome; Pneumatocoele; Signal transducer and activator of transcription 3


Abstract in Chinese

 
 

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