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
2例高免疫球蛋白E綜合徵病人發現信號傳導和轉錄激活因子 3(STAT3)基因突變

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.

常染色體顯性(AD)高免疫球蛋白E綜合徵(HIES,Job 綜合徵)是累及多系統的原發性免疫缺陷病。主要特徵為IgE水平升高,反覆出現皮膚和肺部感染、濕疹、肺膨出、牙齒和肌肉骨骼異常。當出現典型的三聯徵即反覆的冷膿腫、肺膨出形成和血清IgE升高時,警示臨床醫生應考慮診斷HIES。信號傳導和轉錄激活因子3 (STAT3)基因突變近期已被證實導致AD HIES發生。我們報導 3例HIES病人中,有2例發現STAT3基因突變。

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

關鍵詞:膿腫、高免疫球蛋白E綜合徵、Job 綜合徵、肺膨出、信號傳導和轉錄激活因子3

 
 

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