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一名因JAK3基因突变导致严重联合免疫缺陷的患者发生播散性卡介苗感染。

Disseminated Bacille Calmette-Guérin infection in a patient with severe combined immunodeficiency caused by JAK3 gene mutation.

作者信息

Li Meiyun, Chen Zhuo, Zhu Yunlu, Chen Ji

机构信息

Department of Dermatology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Department of Dermatopathology, Shanghai Skin Disease Hospital, Clinical School of Anhui Medical University, Shanghai, China.

出版信息

Pediatr Dermatol. 2019 Sep;36(5):672-676. doi: 10.1111/pde.13884. Epub 2019 Jul 16.

Abstract

Bacille Calmette-Guérin (BCG), a live attenuated vaccine prepared using Mycobacterium bovis, can prevent tuberculosis in children and is routinely administered to infants in China and many other countries. A serious complication following vaccination is disseminated BCG infection. The risk is greatly increased in patients with severe combined immunodeficiency disease (SCID), a syndrome characterized by deficiency of both humoral and cellular immunity. We report a case of disseminated BCG infection in an infant with SCID caused by two novel janus kinase 3 (JAK3) gene mutations.

摘要

卡介苗(BCG)是一种使用牛分枝杆菌制备的减毒活疫苗,可预防儿童结核病,在中国和许多其他国家,婴儿通常会接种该疫苗。接种疫苗后的一种严重并发症是播散性卡介苗感染。在严重联合免疫缺陷病(SCID)患者中,这种风险会大大增加,SCID是一种以体液免疫和细胞免疫均缺陷为特征的综合征。我们报告了一例由两种新的 Janus激酶3(JAK3)基因突变引起的SCID婴儿发生播散性卡介苗感染的病例。

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