患者 STAT1 功能获得性突变致进行性支气管扩张和先天性黏液纤毛清除缺陷症：一种罕见的原发性免疫缺陷病。
Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency.
机构信息
The Pulmonology Outpatients' Clinic, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland.
出版信息
Adv Respir Med. 2020;88(3):271-277. doi: 10.5603/ARM.2020.0112.
Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15.
支气管扩张症是原发性免疫缺陷病患者常见的并发症。AD GOF STAT1 缺陷表现为 CMC、反复感染和自身免疫。它是 CMC 相关 PID 组中最常诊断的疾病。在此，我们报告了首例波兰女性患者的病例，其在 15 岁时因早发性支气管扩张症、CMC 和严重感染而接受基因诊断，存在 AD GOF1 STAT1 突变。
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