重症联合免疫缺陷病的分类、早期筛查及治疗

Classification,early screening and treatment of severe combined immunodeficiency disease

重症联合免疫缺陷(severe combined immunodeficiency,SCID)是一类严重的原发性免疫缺陷疾病,患者于生后不久即发病,表现为反复且危及生命的严重感染,可伴不同程度的发育异常。通常根据国际免疫学会PID专家委员会提出的分类方式,按各型淋巴细胞数量对SCID进行临床分类。SCID的早期筛查和干预是提高预后的关键,随着T细胞受体切除环测定法等早期筛查手段的推广,SCID的检出率较前有明显提高,而其在不同人种的准确检出率仍在进一步探究中。造血干细胞移植是根治SCID的传统疗法,而SCID的基因治疗经过近年的不断改良,安全性正在逐渐提升。该文将对SCID的分类、早期筛查方法及治疗进展进行综述。

Severe combined immunodeficiency(SCID)is a kind of severe primary immunodeficiency disease.Patients often develop symptoms after birth,which is characterized by recurrent and life-threatening infection,sometimes accompanied by varying degrees of dysplasia.According to the classification proposed by the PID expert Committee of the International Union of Immunological Societies,SCID is clinically classified by the number of lymphocytes.Early screening and intervention of SCID is significant to improve the prognosis.With the promotion of TREC and other early screening methods,the detection rate of SCID has significantly improved,but the accurate detection rate in different ethnic groups still needs further explored.Hematopoietic stem cell transplantation is a traditional therapy for radical cure of SCID.And the safety of gene therapy for SCID has been gradually guaranteed with continuous improvement during recent years.This article will review the classification,early screening methods and treatment progress of SCID.