Vignesh Pandiarajan, Rawat Amit, Kumar Ankur, Suri Deepti, Gupta Anju, Lau Yu L, Chan Koon W, Singh Surjit
Pediatric Allergy and Immunology Unit, Advanced Pediatrics Centre, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Department of Pediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong Special Administrative Region, China.
J Clin Immunol. 2017 Feb;37(2):109-112. doi: 10.1007/s10875-016-0366-2. Epub 2016 Dec 29.
Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c.1099C>T (p.) on the other allele. The mother of this child was a carrier for the IVS13-2A>T mutation. All three cases had colitis, and it was the initial symptom in two patients. One of the patients also developed a lung abscess due to Nocardia cyriacigeorgica.
慢性肉芽肿病（CGD）是一种遗传性且基因异质性疾病，由NADPH氧化酶系统不同亚组分的突变引起。NCF2基因突变在所有CGD病例中占比不到5%。我们分析了我们CGD患者队列中具有NCF2基因突变的CGD患者的临床和实验室检查结果。在两例患者中发现了一个纯合突变（c.835_836delAC，p.T279fsX294），即NCF2基因的一个缺失。在第三例患者中，检测到两个杂合突变，一个等位基因上是IVS13 - 2A>T，另一个等位基因上是c.1099C>T（p.）。该患儿的母亲是IVS13 - 2A>T突变的携带者。所有三例患者均患有结肠炎，且在两名患者中是初始症状。其中一名患者还因乔治西里亚星诺卡菌发生了肺脓肿。
