发育医学电子杂志Issue(4)：232-236,5.
8例非Bruton酪氨酸激酶基因突变无丙种球蛋白血症患儿临床特征和基因突变/多态性分析
Clinical characteristics and genetic proifles of non Bruton's tyrosine kinase gene mutation agammaglobulinemia
摘要
Abstract
Objective We retrospectively reviewed 8 patients diagnosed as agammaglobulinemia but without Bruton's tyrosine kinase (BTK) gene mutation, summarized their clinical manifestations and genetic features.MethodWe collected 8 patients who were diagnosed as agammaglobulinemia but no BTK gene mutation found in Shanghai Children's Medical Center from January 2005 to December 2010, analyzed their clinical and laboratory data. PCR followed by direct sequencing to analyze four common disease causing genes includingIGHM,IGLL1,CD79a andCD79b.Results8 patients were diagnosed as non BTK gene mutation agammaglobulinemia, the ratio of male to female patients is 3:1. The mean age of onset was (3.7±2.4)years. All of the patients have long-term recurrent infections, the most common symptom were pneumonia and upper respiratory tract infection.IGLL1 gene deifciency was found in 1 patient, but the other mutations were still undetermined.Conclusions The respiratory infections were the most common symptom in non BTK gene mutation agammaglobulinemia patients. Gene mutation analysis could help to diagnose agammaglobulinemia.关键词
非Bruton酪氨酸激酶基因突变无丙种球蛋白血症/疾病特征/多态现象,遗传Key words
Non Bruton's tyrosine kinase gene mutation agammaglobulinemia/Disease attributes/Polymorphism/Genetic引用本文复制引用
吴静,张慧,龚若兰,陈同辛..8例非Bruton酪氨酸激酶基因突变无丙种球蛋白血症患儿临床特征和基因突变/多态性分析[J].发育医学电子杂志,2015,(4):232-236,5.基金项目
国家自然科学基金（81273314、81571605）、上海市教育委员会科研创新项目基金 （）
