来自上海交通大学医学院附属儿童医学中心，长春中医药大学附属医院等处的研究人员发表了题为“Clinical Characteristics and Genetic Profiles of 44 Patients with Severe Combined Immunodeficiency (SCID): Report from Shanghai, China (2004–2011)”的文章，在国际上首次分析了一种罕见疾病：重症联合免疫缺陷病（SCID）在中国人群的突变基因，以及首次报告了国内此种疾病的临床特征。相关成果公布在国际临床免疫学领域权威杂志Journal of Clinical Immunology杂志上。
文章的通讯作者是上海交通大学医学院附属儿童医学中心免疫科主任陈同辛教授，陈教授从事儿科临床疾病研究和诊治近30年，在原发性免疫缺陷病、免疫功能低下、反复感染、过敏性疾病和风湿病的诊断和治疗等领域中取得了显着的成果。
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, 如果未得到及时的诊断和治疗，患儿多在1岁内死亡。目前国外已经将该病列为“急诊病例”，一旦诊断明确需立即进行造血干细胞移植，及时为患儿赢得新生。
在这篇文章中，研究人员分析了2004年至2011年期间，我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，他们通过8年的临床工作积累，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，并发现了11种国际上从未报道过的新型突变基因，由此更加丰富了重症联合免疫缺陷病突变的基因库。
由于SCID属于罕见疾病，44例报道即便在国际上也属于大样本研究，这项研究一经发表，即受到国际同行的高度评价。有关专家认为，该文对于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、早期治疗有着重要的参考意义。此文的发表也将对我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。
陈同辛教授曾在国内率先开展了原发性免疫缺陷病的免疫分型和基因诊断，并在国外SCI期刊发表相关论着10余篇，承担了WHO的原发性免疫缺陷病脊灰病毒携带的调查，促成上海市少儿住院基金设立了原发性免疫缺陷病治疗专项基金。
此外其研究组还曾首次成功用造血干细胞治疗先天性免疫缺陷症，先天性免疫缺陷症是一种遗传性疾病，一般多在婴儿期和儿童期发病。已经明确的先天性免疫缺陷病种类达到150多种，在遗传性疾病中属于高发病率疾病。
陈同辛教授在经过长达7个月的随访证实，一位22岁的先天性免疫缺陷症患者自身免疫系统已成功重建，自此他也成为中国内地首位通过造血干细胞移植治疗脱离先天性免疫缺陷症的患者。(生物谷Bioon.com)
DOI:10.1007/s10875-012-9854-1
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PMID:
Clinical Characteristics and Genetic Profiles of 44 Patients with Severe Combined Immunodeficiency (SCID): Report from Shanghai, China (2004–2011)
Chun-Mei Yao, Xiao-Hua Han, Yi-Dan Zhang, Hui Zhang, Ying-Ying Jin, Rui-Ming Cao, Xi Wang, Quan-Hua Liu, Wei Zhao, Tong-Xin Chen
Severe combined immunodeficiency (SCID), a rare type of genetic associated immune disorder, is poorly characterized in mainland China. We retrospectively reviewed 44 patients with SCID who received treatment from 2004 to 2011 in Shanghai, China, and herein summarize their clinical manifestations and immunological and preliminary genetic features. The male-to-female ratio was 10:1. Twenty five patients presented with X-SCID symptoms. Only one patient was diagnosed before the onset of symptoms due to positive family history. The mean time of delay in the diagnosis of X-SCID was 2.69 months (range, 0.5–8.67). Thirty-seven of the 44 patients died by the end of 2011 with the mean age of death being 7.87 months (range, 1.33–31). Six patients received hematopoietic stem cell transplantation (HSCT); only one of them survived, who was transplanted twice. The time between onset and death was shorter in the HSCT-treated group compared with the untreated group (2.87 ± 1.28 and 3.34 ± 0.59 months, respectively), probably due to active infections during transplantation. Bacillus Calmette–Guérin (BCG) complications occurred in 14 of the 34 patients who received BCG vaccination. Transfusion-induced graft-versus-host disease occurred in 5 patients. Total 20 mutations in interleukin-2 receptor subunit gamma (IL2RG) were identified in 22 patients, including 11 novel mutations. Most patients were misdiagnosed before referred to our SCID Center. Therefore, establishing more diagnostic centers dedicated to the care of PID and accessible by primary immunodeficiency patients will facilitate early, correct diagnosis and better care of SCID in China.
