中新网上海1月5日电 (张旦昕陈静)上海交通大学医学院今日披露，该医学院附属儿童医学中心免疫专家领衔的课题组论文首次阐明中国重症联合免疫缺陷病临床特征，并发现了11种国际上从未报道过的新型突变基因。

Beijing on January 5, Shanghai (ZhangDanXin borkhard)Shanghai jiaotong university school of medicine today,The medical school affiliated children's medical center immune experts led research thesis clarifies the severe combined immunodeficiency disease clinical features,And found 11 kinds of international has never been reported in the new mutations.

　　这篇题为“44例重症联合免疫缺陷病(SCID)患儿的临床特征和基因图谱：来自中国上海报告(2004-2011)”的论文，刚刚在国际临床免疫学领域权威杂志——《临床免疫学期刊》在线发表。该论文也是国际上首次关于中国重症联合免疫缺陷病儿童单中心大样本的临床研究报告。

This essay,"44 cases of severe combined immunodeficiency disease(SCID)The patient's clinical characteristics and genetic map:The report from Shanghai, China(2004-2011)"The paper,Just in the field of international clinical immunology authoritative magazine --[Clinical immunology]Published online.The paper is also in the world for the first time on China's severe combined immunodeficiency disease children's single center large clinical study report.

　　据介绍，重症联合免疫缺陷病是一组严重威胁儿童健康的原发性免疫缺陷病，是以T淋巴细胞缺乏或功能异常、伴或不伴B淋巴细胞和自然杀伤细胞数量减少或功能缺陷为特点的一组疾病。该病发病年龄早，临床表现重，预后较差，如果不能得到及时诊治，患儿多在1岁内死亡。

According to introducing,Severe combined immunodeficiency disease is a serious threat to the health of children of primary immunodeficiency disease,Is lack of T lymphocytes or dysfunction/With or without B lymphocytes and natural killer cells with fewer defects or function of a group of diseases.The disease onset age early,Clinical manifestations of heavy,The prognosis is poorer,If you can't get timely treatment,More children die within one year of age.

　　目前，国外医疗界已将重症联合免疫缺陷病列为“急诊病例”，一旦诊断明确，需立即进行造血干细胞移植。而国际医学研究界至今尚无关于中国儿童重症联合免疫缺陷病的相关报道。

At present,,Foreign medical have severe combined immunodeficiency disease listed"Emergency cases",Once the diagnosis is clear,Hematopoietic stem cell transplantation should be carried out immediately.And international medical research field so far there is no about Chinese children's reports of severe combined immunodeficiency disease.

　　据了解，在论文中，研究者阐述了2004年至2011年期间，中国儿童重症联合免疫缺陷病患儿的临床特征和基因突变特点，研究者通过8年临床积累，从性别组成、发病年龄、临床表现、造血干细胞移植及预后等方面分析了44例重症联合免疫缺陷病(SCID)患儿的临床特征及基因突变特点，进而发现了11种国际上新型突变基因，以此丰富了重症联合免疫缺陷病突变的基因库。

It is understood,In the thesis,The researchers described during 2004 to 2011,Chinese children of children with severe combined immunodeficiency disease clinical characteristics and genetic mutations,Clinical researchers through 8 years to accumulate,From the gender composition/age/Clinical manifestations/Hematopoietic stem cell transplantation and prognosis, etc, 44 cases of severe combined immunodeficiency disease were analyzed(SCID)The patient's clinical characteristics and genetic mutations,And then found the 11 kinds of new mutations in the world,In order to enrich the severe combined immunodeficiency disease mutations in the gene pool.

　　由于该病属罕见疾病范畴，44例报道已属于大样本研究。业内人士指出，这项研究不仅对了解中国重症联合免疫缺陷病患儿的临床特征及基因突变特点，以及针对其早期干预、治疗有着重要的参考意义；也将对中国早期重症联合免疫缺陷病的诊断、造血干细胞移植和新生儿疾病的筛查以及婴幼儿健康的保障等项工作起到积极的促进和推动作用。

Because the disease is a rare disease,44 cases reported has to belong to large sample research.The personage inside course of study points out that the,The study not only to understand China's children with severe combined immunodeficiency disease clinical characteristics and genetic mutations,And according to the early intervention/Treatment is an important reference significance;Will be in China early severe combined immunodeficiency disease diagnosis/Hematopoietic stem cell transplantation and the health of the newborn infant disease screening and security and so on a work play a positive role of promote and promote.

　　领衔该研究的陈同辛是中国儿科临床免疫学知名专家，他在中国率先开展了原发性免疫缺陷病的免疫分型和基因诊断，并承担了WHO的原发性免疫缺陷病脊灰病毒携带的调查，2006年，陈同辛利用造血干细胞治愈了中国首例原发性免疫缺陷病病患儿，填补了中国在这一领域的空白。

Led the study of ChenTongXin is China's well-known experts in pediatric clinical immunology,He primary immunodeficiency disease in China took the lead in the immune classification and genetic diagnosis,And bear the WHO's primary immunodeficiency disease JiHui virus carry investigation,In 2006,,ChenTongXin of hematopoietic stem cell cured China's first primary immunodeficiency disease of children,Fill the blank in this field in China.