鉴定 X 连锁慢性肉芽肿病患者 CYBB 基因 p.Asp378Gly 新突变。

Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease.

机构信息

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. ; Environmental Health Center for Atopic Diseases, Samsung Medical Center, Seoul, Korea.

出版信息

Allergy Asthma Immunol Res. 2014 Jul;6(4):366-9. doi: 10.4168/aair.2014.6.4.366. Epub 2014 Jan 20.

DOI:10.4168/aair.2014.6.4.366

PMID:24991462

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4077965/

Abstract

Chronic granulomatous disease (CGD) is a rare immunodeficiency disease, which is characterized by the lack of a functional nicotinamide adenine dinucleotide phosphate (NADPH) oxidase in phagocytes. The disease presents leukocytosis, anemia, hypergammaglobulinemia, and granuloma formation of the skin, lung, or lymph nodes. The mutation of the CYBB gene encoding gp91phox, located on chromosome Xp21.1 is one of the causes of CGD. We report a patient with X-linked CGD who carried a novel mutation, a c.1133A>G (paAsp378Gly) missense mutation, in the CYBB gene.

摘要

慢性肉芽肿病（CGD）是一种罕见的免疫缺陷病，其特征为吞噬细胞中烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶功能缺失。该疾病表现为白细胞增多、贫血、高丙种球蛋白血症和皮肤、肺或淋巴结肉芽肿形成。编码 gp91phox 的 CYBB 基因突变，位于 X 染色体 Xp21.1 上，是 CGD 的原因之一。我们报告了一例 X 连锁 CGD 患者，其 CYBB 基因中存在一种新的突变，c.1133A>G（paAsp378Gly）错义突变。