Vilaiphan Prapaporn, Chatchatee Pantipa, Ngamphaiboon Jarungchit, Tongkobpetch Siraprapa, Suphapeetiporn Kanya, Shotelersuk Vorasuk
Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
Asian Pac J Allergy Immunol. 2007 Dec;25(4):243-7.
X-linked chronic granulomatous disease (X-CGD) is an immunodeficiency disorder characterized by defective intracellular killing of microorganisms due to the neutrophils' inability to generate superoxide ions. Although it is always caused by mutations in the CYBB gene, clinical and molecular characteristics vary in different ethnic backgrounds. Two unrelated Thai boys presented with severe persistent pulmonary infections at the age of two months. Their abnormal dihydrorhodamine (DHR) flow cytometry assays supported the diagnosis of X-CGD. Mutation analysis was performed by polymerase chain reaction (PCR) amplification and sequencing of the entire coding regions of CYBB. Mutations identified were confirmed by restriction enzyme analyses. PCR-sequencing of the entire coding regions of CYBB identified nonsense mutations, 271C>T (R91X) in exon 4 and 456T>A (Y152X) in exon 5, in probands of each family. Both of the patients' mothers were found to be carriers. This observation supports that CYBB is the gene responsible for X-CGD across different populations and nonsense mutations are associated with severe phenotypes.
X连锁慢性肉芽肿病（X-CGD）是一种免疫缺陷疾病，其特征是由于中性粒细胞无法产生超氧离子，导致细胞内杀灭微生物的功能存在缺陷。尽管它总是由CYBB基因突变引起，但在不同种族背景下，临床和分子特征有所不同。两名不相关的泰国男孩在两个月大时出现严重的持续性肺部感染。他们异常的二氢罗丹明（DHR）流式细胞术检测结果支持了X-CGD的诊断。通过聚合酶链反应（PCR）扩增和对CYBB整个编码区进行测序来进行突变分析。通过限制性酶切分析对鉴定出的突变进行了确认。对CYBB整个编码区进行PCR测序，在每个家系的先证者中鉴定出无义突变，分别为外显子4中的271C>T（R91X）和外显子5中的456T>A（Y152X）。发现两名患者的母亲均为携带者。这一观察结果支持CYBB是不同人群中导致X-CGD的基因，且无义突变与严重表型相关。
