Yi Zhang, Yuko Yokoyama, Yanrong Qing, Cong Han, Jiayi Zhu, Tingting Yu, Lei Yin, Ruen Yao, Jian Wang
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引用次数: 0
摘要
背景：A 组 II 型裸淋巴细胞综合征（BLS II）是一种罕见的原发性重症免疫缺陷病，由编码 MHC II 分子转录调控因子的基因之一 CIITA 的缺陷引起：报告一名患有 CIITA 基因突变的中国男童：方法：回顾患儿的临床资料，并对 BLS II A 组进行文献检索：结果：患儿表现为持续性肺炎、慢性腹泻、尿路感染、皮疹、发育不良和特殊面容。该患者携带 CIITA 的新型突变（c.1243delC，p.R415fs*2 和 c.3226C>T，p.R1076W），这些突变经新一代测序鉴定，并经桑格测序确认：本研究在 BLS II 的 CIITA 基因中发现了新的突变，补充了突变谱，有助于 BLS II 的诊断、治疗、遗传咨询和产前诊断。
Novel variants in CIITA caused type II bare lymphocyte syndrome: A case report.
Background: Type II bare lymphocyte syndrome (BLS II) group A is a rare primary severe immunodeficiency caused by defects in CIITA, one of genes encoding transcriptional regulatory factors for MHC II molecules.
Objective: To report a Chinese boy with mutation of CIITA.
Methods: By reviewing the clinical data of the child and performing a literature search of BLS II group A.
Results: The patient was presented with persistent pneumonia, chronic diarrhea, urinary tract infection, rash, failure to thrive and special facial characteristics. The patient carried novel mutations in CIITA (c.1243delC, p.R415fs*2 and c.3226C>T, p.R1076W) which were identified by next-generation sequencing and confirmed by Sanger sequencing.
Conclusions: This study found novel mutations in the CIITA gene of BLS II, which complemented the mutation spectrum and contributed to the diagnosis, treatment, genetic counseling and prenatal diagnosis of BLS II.
期刊介绍：
The Asian Pacific Journal of Allergy and Immunology (APJAI) is an online open access journal with the recent impact factor (2018) 1.747
APJAI published 4 times per annum (March, June, September, December). Four issues constitute one volume.
APJAI publishes original research articles of basic science, clinical science and reviews on various aspects of allergy and immunology. This journal is an official journal of and published by the Allergy, Asthma and Immunology Association, Thailand.
The scopes include mechanism, pathogenesis, host-pathogen interaction, host-environment interaction, allergic diseases, immune-mediated diseases, epidemiology, diagnosis, treatment and prevention, immunotherapy, and vaccine. All papers are published in English and are refereed to international standards.
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