中国实用儿科杂志2024，Vol.39Issue(7)：530-538,9.DOI:10.19538/j.ek2024070611
基因突变致LIG4综合征临床及基因特征
LIG4 syndrome caused by gene mutation:the clinical and genetic characteristics
摘要
Abstract
Objective To explore the clinical and genetic characteristics of LIG4 syndrome.Methods We retrospectively analyzed the clinical data of 3 patients with LIG4 syndrome who were admitted to ShangHai Children'S Hospital from Jun 2014 to Aug 2018,and reviewed related articles.Results All 3 cases were female,presented with recurrent chronic diarrhea or recurrent respiratory infections.The clinical manifestations were microcephaly,a special"bird-head-like"face,growth retardation,and repeated infections.The blood routine showed that the lymphocyte count was significantly reduced,the immune function showed that the counts of T and B lymphocytes were decreased,and immunodeficiency disease was considered clinically.The gene detection revealed that P1 had homozygous mutation of LIG4 gene,c.833G＞T(p.R278L),with severe clinical phenotype;P2 had LIG4 gene complex heterozygous mutations,c.883G＞T(p.R278L)and c.1144-1145delCT(p.L382EfsX5);P3 had LIG4 gene complex heterozygous mutations,c.28-29delGT(p.vall0fs)and c.1341G＞T(p.Trp447cys),where the frameshift gene mutation site,c.28-29delGT(p.vall0fs),had not been reported.P1 died of severe infection and multiple organ dysfunction syndrome.P2 had preventive anti-infection treatment and received regular human immunoglobulin infusion,who still had recurrent infection and lost follow-up.P3 underwent peripheral blood hematopoietic stem cell transplantation,and established normal immune function.She did not have recurrent infection during 2-year follow-up period.A total of 46 cases of LIG4 syndrome had been published worldwide,including 13 cases and 1 family report of LIG4 syndrome in China.Conclusion Immunodeficiency diseases should be considered in the patients with chronic multiple infections accompanied by T and B lymphocytes decrease,growth retardation,and microcephaly.Gene testing helps confirm the diagnosis and prenatal screening.Hematopoietic stem cell transplantation is effective for immune reconstitution.关键词
LIG4综合征/免疫缺陷/感染/造血干细胞移植Key words
DNA ligase Ⅳ syndrome/immunodeficiency/infection/hematopoietic stem cell transplantation分类
医药卫生引用本文复制引用
刘红红,王怡仲,肖咏梅,吴胜男,张育才,张婷..基因突变致LIG4综合征临床及基因特征[J].中国实用儿科杂志,2024,39(7):530-538,9.基金项目
国家自然科学基金项目(81870373) （81870373）
