对2017年6月山东第一医科大学第一附属医院儿科收治的1例免疫缺陷-着丝粒不稳定-面部异常综合征(ICF综合征)2型患儿的临床及遗传学特点进行回顾性分析及文献复习。患儿，女，13月龄，因“反复感染1年”入院。体格检查发现鼻梁低平，眼距宽。体液免疫示免疫球蛋白G(IgG)、IgA和IgM均减少。基因检测发现该患儿存在n ZBTB24基因的复合杂合突变：6号染色体上c.1237_1247del移码突变及c.460A>T无义突变。在中国知网、万方数据库及PubMed数据库(建库至2020年8月)以“ICF综合征”“免疫缺陷-着丝粒不稳定-面部异常”“ZBTB24”为检索词，检索到符合条件的中文文献0篇、英文文献13篇，共24例患儿，其中面容异常以眼距过宽、内眦赘皮、鼻梁低平最常见，多数患儿存在反复呼吸道及消化道感染，患儿均存在不同程度的免疫球蛋白缺陷。24例患儿均存在n ZBTB24基因突变，共发现16个突变位点，其中移码突变6个，无义突变5个，错义突变5个。ICF综合征是一种罕见的常染色体隐性遗传病，典型临床表现为免疫缺陷及面部异常，可通过基因分析确诊。n “,”The clinical and genetic features of a child with immunodeficiency, centromeric instability, facial anomalies syndrome type 2(ICF2)admitted to pediatrics of the First Affiliated Hospital of Shandong First Medical University in June 2017 were retrospectively analyzed and the literature was reviewed.A 13-month-old female patient with flat nasal bridge and hypertelorism presented to the hospital for recurrent infection for 1 year.Laboratory tests showed humoral immune deficiency with immunoglobulin(Ig)G, IgA and IgM.Whole-exome sequencing revealed a de novo heterozygous frameshift mutation c. 1237_1247del and a de novo heterozygous nonsense mutation c. 460A>T ofn ZBTB24 gene.Through searching “ ICF syndrome” “ immunodeficiency, centromeric instability and facial anomalies syndrome” and “ ZBTB24” in CNKI, Wanfang databases and PubMed published until August 2020, a total of 13 English language literatures involving 24 children with ICF2 were searched.The most common facial anomalies were hyper-telorism, epicanthus and flat nasal bridge.Most children had recurrent respiratory and digestive tract infections.All the children had humoral immune deficiency at varying degrees.All 24 children had n ZBTB24 gene mutation, 16 mutations were reported, including 6 frameshift, 5 nonsense, 5 missense mutations.ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical manifestations, including humoral immune deficiency and facial anomalies.It can be diagnosed by genetic analysis.n