免疫缺陷-着丝粒不稳定-面部异常综合征研究进展  

Advance in the immunodeficiency-centromeric instability-facial anomalies syndrome

作　　者：林丽[1] 孙金峤 Lin Li;Sun Jinqiao(Division of Pediatric Pulmonology and Immunology,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,China;Department of Clinical Immunology,Children's Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]四川大学华西第二医院小儿呼吸免疫科/出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]复旦大学附属儿科医院临床免疫科,上海201102

出　　处：《中华实用儿科临床杂志》2023年第3期237-240,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：免疫缺陷-着丝粒不稳定-面部异常综合征,简称ICF综合征,是目前已知的唯一涉及DNA甲基化缺陷的人类遗传病,约50%的病例由DNMT3B基因复合杂合突变所致。全球已有百余病例,目前国内仅有数例报道,且不排除误诊及漏诊的可能,尚无中文文献系统性阐述该病,现综述ICF综合征可能涉及的发病机制、临床表现、遗传特征、治疗手段与预后,以提高国内医师对该病的认识。The immunodeficiency-centromeric instability-facial anomalies(ICF)syndrome is the only known human genetic disease involving DNA methylation defects.About 50%of the cases are caused by the compound heterozygous mutation of DNMT3B gene.About a hundred cases were reported in the world,but only a few cases came from China.There may be a misdiagnosis and missed diagnosis.To the best of our knowledge,no Chinese article systematically discusses the ICF syndrome.This paper aims to review the possible mechanisms,clinical manifestations,genetic characteristics,treatment,and prognosis of the ICF syndrome,and to improve Chinese doctors'knowledge about this disease.

关 键 词：原发性免疫缺陷病 免疫缺陷-着丝粒不稳定-面部异常综合征 DNA甲基化 DNMT3B基因 

分 类 号：R725.9[医药卫生—儿科]