Chaimowitz Natalia S, Branch Justin, Reyes Anaid, Vargas-Hernández Alexander, Orange Jordan S, Forbes Lisa R, Ehlayel Mohammed, Purayil Saleema C, Al-Nesf Maryam Ali, Vogel Tiphanie P
Section of Immunology, Allergy and Rheumatology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, United States.
Allergy and Immunology Section, Hamad Medical Corporation, Doha, Qatar.
Front Pediatr. 2019 Apr 24;7:130. doi: 10.3389/fped.2019.00130. eCollection 2019.
Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective tissue anomalies. We report the case of a Qatari child with a history of recurrent staphylococcal skin infections since infancy, who was found to have a novel, mutation in STAT3 (c.1934T>A, p.L645Q). The absence of mucocutaneous candidiasis and undetectable IgE levels until the age of 7 years prolonged the time to molecular confirmation of the cause for the patient's immune deficiency. STAT3 p.L645Q was found to have decreased transcriptional capacity. The patient also had low levels of Th17 cells and STAT3 phosphorylation was impaired in patient-derived cells. Nearly 100 unique mutations in STAT3 have been reported in association with AD-HIES.
由转录因子 STAT3 突变引起的常染色体显性高 IgE 综合征（AD-HIES）的特征是一系列免疫和非免疫特征，包括湿疹、反复感染、IgE 水平升高和结缔组织异常。我们报告了一名卡塔尔儿童的病例，该儿童自婴儿期起就有反复葡萄球菌皮肤感染史，发现其 STAT3 基因存在一种新的突变（c.1934T>A，p.L645Q）。直到 7 岁时都没有黏膜皮肤念珠菌病且 IgE 水平检测不到，这延长了对该患者免疫缺陷病因进行分子确诊的时间。发现 STAT3 p.L645Q 的转录能力下降。该患者的 Th17 细胞水平也较低，且患者来源细胞中的 STAT3 磷酸化受损。与 AD-HIES 相关的 STAT3 中已报道了近 100 种独特的突变。
