Clinical Characteristics and Genetic Profiles of 44 Patients with Severe Combined Immunodeficiency (SCID): Report from Shanghai, China (2004-2011)
Clinical Characteristics and Genetic Profiles of 44 Patients with Severe Combined Immunodeficiency (SCID): Report from Shanghai, China (2004-2011)
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44 例严重联合免疫缺陷 (SCID) 患者的临床特征和基因谱：来自中国上海的报告（2004-2011 年）
DOI：
10.1007/s10875-012-9854-1
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发表时间：
2013-04-01
影响因子：
9.1
通讯作者：
Chen, Tong-Xin
中科院分区：
文献类型：
--
作者：
Yao, Chun-Mei;Han, Xiao-Hua;Chen, Tong-Xin
严重联合免疫缺陷病（SCID）是一种罕见的遗传相关免疫疾病，在中国大陆的特点很差。我们回顾性分析了2004年至2011年在中国上海接受治疗的44例SCID患者，并总结了其临床表现和免疫学及初步遗传学特征。男女比例为10：1。25例患者出现X-SCID症状。只有1例患者在症状出现前因阳性家族史而确诊。诊断的平均延迟时间为2.69个月（范围，0.5 - 8.67）。截至2011年底，44例患者中有37例死亡，平均死亡年龄为7.87个月（范围1.33 - 31）。6例患者接受造血干细胞移植（HSCT），其中1例存活，移植2次。与未治疗组相比，HSCT治疗组的发病和死亡之间的时间较短（分别为2.87 +/-1.28和3.34 +/-0.59个月），可能是由于移植期间的活动性感染。34例接种卡介苗的患者中有14例发生卡介苗（BCG）并发症。5例患者发生输血诱导的移植物抗宿主病。在22例患者中共检测到20种IL-2受体γ亚单位（IL-2RG）突变，其中包括11种新突变。大多数患者在转诊到我们的SCID中心之前被误诊。因此，建立更多的诊断中心，致力于PID的治疗和原发性免疫缺陷患者的访问，将有助于早期，正确的诊断和更好地照顾SCID在中国。
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-Gurin (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.