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Pulmonary Infections and Surgical Complications in a Young Girl with Signal Transducer and Activator of Transcription 3 Loss-of-Function Mutation Hyperimmunoglobulin E Syndrome: A Case Report
Pediatric Allergy, Immunology, and Pulmonology ( IF 1.1 ) Pub Date : 2021-03-17 , DOI: 10.1089/ped.2020.1225
Crhistian Toribio-Dionicio 1 , Dania Cubas-Guzmán 1 , Pedro Guerra-Canchari 2 , Vanuza García-Sánchez 3 , Wilmer Córdova-Calderón 4
Affiliation  

Introduction: Hyperimmunoglobulin E syndromes (HIESs) are characterized by a high serum immunoglobulin E (IgE) level, eczematoid rashes, recurrent staphylococcal skin abscesses, and recurrent pneumonia and pneumatocele formation. Autosomal dominant HIES is the most common form of HIES and mainly occurs due to loss-of-function mutations in the Signal Transducer and Activator of Transcription 3 (STAT3) gene (STAT3 LOF).

中文翻译:


一名患有信号转导器和转录激活剂 3 功能丧失突变高免疫球蛋白 E 综合征的年轻女孩的肺部感染和手术并发症:病例报告



简介:高免疫球蛋白 E 综合征 (HIES) 的特点是血清免疫球蛋白 E (IgE) 水平高、湿疹样皮疹、复发性葡萄球菌皮肤脓肿以及复发性肺炎和气肿形成。常染色体显性 HIES 是 HIES 的最常见形式,主要是由于信号转导和转录激活因子 3 ( STAT3 ) 基因 ( STAT3 LOF) 的功能丧失突变所致。
更新日期:2021-03-19
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