A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome

Frontiers in Pediatrics

article

Natalia S. Chaimowitz¹  Tiphanie P. Vogel¹  Justin Branch¹  Anaid Reyes¹  Alexander Vargas-Hernández¹  Jordan S. Orange¹  Lisa R. Forbes¹  Mohammed Ehlayel²  Saleema C. Purayil²  Maryam Ali Al-Nesf² 

[1] Section of Immunology, Department of Pediatrics, Center for Human Immunobiology, Baylor College of Medicine, Texas Children's Hospital, United States;Allergy and Immunology Section

关键词: STAT3;    Job syndrome;    AD-HIES;    eczema;    pneumonia;    case report;   

DOI  :  10.3389/fped.2019.00130

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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, de novo 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.

【 授权许可】

CC BY