來(lái)自上海交通大學(xué)醫(yī)學(xué)院附屬兒童醫(yī)學(xué)中心,，長(zhǎng)春中醫(yī)藥大學(xué)附屬醫(yī)院等處的研究人員發(fā)表了題為“Clinical Characteristics and Genetic Profiles of 44 Patients with Severe Combined Immunodeficiency (SCID): Report from Shanghai, China (2004–2011)”的文章，在國(guó)際上首次分析了一種罕見疾?。褐匕Y聯(lián)合免疫缺陷?。⊿CID）在中國(guó)人群的突變基因，以及首次報(bào)告了國(guó)內(nèi)此種疾病的臨床特征,。相關(guān)成果公布在國(guó)際臨床免疫學(xué)領(lǐng)域權(quán)威雜志Journal of Clinical Immunology雜志上,。
文章的通訊作者是上海交通大學(xué)醫(yī)學(xué)院附屬兒童醫(yī)學(xué)中心免疫科主任陳同辛教授，陳教授從事兒科臨床疾病研究和診治近30年,，在原發(fā)性免疫缺陷病,、免疫功能低下、反復(fù)感染,、過(guò)敏性疾病和風(fēng)濕病的診斷和治療等領(lǐng)域中取得了顯著的成果,。
重癥聯(lián)合免疫缺陷病是一組嚴(yán)重威脅兒童健康的原發(fā)性免疫缺陷病, 是以T淋巴細(xì)胞缺乏或功能異常、伴或不伴B淋巴細(xì)胞和自然殺傷細(xì)胞數(shù)量減少或功能缺陷為特點(diǎn)的一組疾病,。該病發(fā)病年齡早, 臨床表現(xiàn)重, 預(yù)后較差, 如果未得到及時(shí)的診斷和治療,，患兒多在1歲內(nèi)死亡。目前國(guó)外已經(jīng)將該病列為“急診病例”,，一旦診斷明確需立即進(jìn)行造血干細(xì)胞移植,，及時(shí)為患兒贏得新生。
在這篇文章中,，研究人員分析了2004年至2011年期間,，我國(guó)兒童重癥聯(lián)合免疫缺陷病患兒的臨床特征和基因突變特點(diǎn)，他們通過(guò)8年的臨床工作積累,，從性別組成,、發(fā)病年齡、臨床表現(xiàn),、造血干細(xì)胞移植及預(yù)后等方面分析了44例重癥聯(lián)合免疫缺陷?。⊿CID）患兒的臨床特征及基因突變特點(diǎn)，并發(fā)現(xiàn)了11種國(guó)際上從未報(bào)道過(guò)的新型突變基因,，由此更加豐富了重癥聯(lián)合免疫缺陷病突變的基因庫(kù),。
由于SCID屬于罕見疾病，44例報(bào)道即便在國(guó)際上也屬于大樣本研究,，這項(xiàng)研究一經(jīng)發(fā)表,，即受到國(guó)際同行的高度評(píng)價(jià),。有關(guān)專家認(rèn)為,，該文對(duì)于了解中國(guó)重癥聯(lián)合免疫缺陷病患兒的臨床特征及基因突變特點(diǎn),，以及針對(duì)其早期干預(yù)、早期治療有著重要的參考意義,。此文的發(fā)表也將對(duì)我國(guó)早期重癥聯(lián)合免疫缺陷病的診斷,、造血干細(xì)胞移植和新生兒疾病的篩查以及嬰幼兒健康的保障等項(xiàng)工作起到積極的促進(jìn)和推動(dòng)作用。
陳同辛教授曾在國(guó)內(nèi)率先開展了原發(fā)性免疫缺陷病的免疫分型和基因診斷,，并在國(guó)外SCI期刊發(fā)表相關(guān)論著10余篇,，承擔(dān)了WHO的原發(fā)性免疫缺陷病脊灰病毒攜帶的調(diào)查，促成上海市少兒住院基金設(shè)立了原發(fā)性免疫缺陷病治療專項(xiàng)基金,。
此外其研究組還曾首次成功用造血干細(xì)胞治療先天性免疫缺陷癥,，先天性免疫缺陷癥是一種遺傳性疾病，一般多在嬰兒期和兒童期發(fā)病,。已經(jīng)明確的先天性免疫缺陷病種類達(dá)到150多種,，在遺傳性疾病中屬于高發(fā)病率疾病。
陳同辛教授在經(jīng)過(guò)長(zhǎng)達(dá)7個(gè)月的隨訪證實(shí),，一位22歲的先天性免疫缺陷癥患者自身免疫系統(tǒng)已成功重建,，自此他也成為中國(guó)內(nèi)地首位通過(guò)造血干細(xì)胞移植治療脫離先天性免疫缺陷癥的患者。(生物谷Bioon.com)
DOI:10.1007/s10875-012-9854-1
PMC:
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.
