摘要 目的探讨免疫缺陷-染色体着丝粒不稳定-面部畸形(ICF)综合征的临床特征、免疫表型、基因诊断及治疗,提高对该病的认识。方法回顾性分析2018年1月至2019年12月复旦大学附属儿科医院临床免疫科诊断的3例ICF综合征患者的临床资料和全外显子组测序(WES)结果,结合文献复习,总结该病的临床特征和基因突变。结果 3例ICF综合征患者中,例1为ICF1综合征,例2和例3为ICF2综合征。3例患者均表现为反复感染,包括肺部感染、肠道感染、败血症等;均伴有特殊面容及智力发育落后;免疫功能提示免疫球蛋白减低,外周血B淋巴细胞存在不同程度减低甚至缺如,淋巴细胞亚群精细分型显示其中记忆性B细胞减低。例1患者染色体检查提示1号染色体着丝粒不稳定。WES结果显示3例患者均为复合杂合突变:例1为DNMT3B:c.922-2A>G,c.2476C>T;例2为ZBTB24:c.705del A,c.649-652del GAAG;例3为ZBTB24:c.1237-1247del,c.460A>T。其中ZBTB24基因的4个位点既往未见报道。结论对于反复感染伴有发育异常或特殊面容的儿童需考虑ICF综合征的可能,进一步完善免疫功能及基因检测明确诊断,以期早期发现、早期治疗,改善预后。 Objective To report the clinical,immunologic and genetic characteristics of immunodeficiency,centromeric instability and facial anomalies syndrome(ICF syndrome).So to increase our acknowledge of this disease.Methods Three cases were diagnosed with ICF syndrome in the department of clinical immunology,Children’s Hospital of Fudan University between January 2018 and December 2019.The clinical manifestations,immunological phenotypes and whole exome sequencing(WES)results were reviwed retrospectively.The clinical features and gene mutations of the disease were further summarized by literature review.Results P1 was diagnosed with ICF1 syndrome,P2 and P3 were diagnosed with ICF2 syndrome.All of the 3 patients were manifested by recurrent infection,including recurrent pneumonia,intestinal infection and sepsis,which were accompanied by facial anomalies and mental retardation.Immune function tests suggested hypogammaglobulin and decrease or absence of B lymphocytes in peripheral blood.Lymphocyte subsets testing showed memory B lymphopenia.Chromosome karyotype analysis of P1 showed centromere instability in chromosome 1.Whole-exome sequencing(WES)was performed in 3 patients and compound heterozygous mutations were identified:P1 with DNMT3B mutation:c.922-2A>G,c.2476C>T;P2 with ZBTB24 mutation:c.705del A,c.649-652del GAAG;P3 with ZBTB24 mutation:c.1237-1247del,c.460A>T.Conclusion Patients who had recurrent infection,mental retardation or facial anomalies should be suspected with ICF syndrome.Immune function assessment and genetic testing can be performed to achieve a early diagnosis and adequate treatment, so as to improve the prognosis.
机构地区 复旦大学附属儿科医院临床免疫科 厦门市儿童医院
出处 《中国实用儿科杂志》 CSCD 北大核心 2021年第2期115-120,共6页 Chinese Journal of Practical Pediatrics
基金 上海市卫生和计划生育委员会青年课题(20164Y0056)。
分类号 R72 [医药卫生—儿科]
