目的 总结IL2RG基因突变所致的婴儿类炎症性肠病(IBD)结肠炎的临床及基因突变特征.方法 回顾性总结2017年11月湖南省儿童医院收治的1例IL2RG基因突变致婴儿类IBD结肠炎临床诊治过程和免疫PANEL检测突变基因结果,并以“IL2RG gene”“infant onset IBD”“SCID”“diarrhea”“IL2RG基因”“婴儿炎症性肠病”“重症联合免疫缺陷病”“腹泻”为检索词,检索PubMed、Web of Science、Embase、中国知网和万方数据库1993年4月至2018年10月的文献,进行相关文献复习.结果 患儿,男,年龄1月,以“反复腹泻1个月,血便15d,发热3d”为主诉人院.患儿无反复口腔溃疡、肛周病变等.细胞免疫结果显示总T淋巴细胞为1.19％(正常范围64％ ～ 73％),辅助/诱导性T淋巴细胞为0.16％(正常范围29％～36％),抑制性/细胞毒性T淋巴细胞为0.99％(正常范围24％～ 34％),CD4/CD8为0.17(正常范围1.6～ 2.2).体液免疫结果显示IgM、IgG、IgE均下降.肠镜结果:结肠多发溃疡.免疫PANEL结果显示为IL2RG基因突变(E5,c.675C＞T,pR226C),提示X-连锁重症免疫缺陷病.其母亲携带致病基因.结论 IL2RG基因突变可引起X-连锁重症联合免疫缺陷,基因检测可明确诊断.本例患儿同时伴有婴儿炎症性肠病表现,为国内首次报道.%Objective To summarize the clinical and genetic features of an infantile inflammatory bowel disease (IBD)-like colitis caused by IL2RG gene mutation.Methods Clinical course of diagnosis and treatment of an infantile IBD-like colitis case caused by IL2RG gene mutation at the Hunan Children's Hospital in November 2017 and the results of immunogenic PANEL detection of mutant genes were retrospectively summarized.Key words of "IL2RG gene","infant onset IBD","SCID","diarrhea","infant inflammatory bowel disease","severe combined immunodeficiency disease" were used to retrieved associated literatures from PubMed,Web of Science,Embase,China Knowledge Network and Wanfang database from April 1993 to October 2018.Related literatures were reviewed.Results This male 1-month old case was admitted to the hospital with "recurrent diarrhea for 1 month,bloody stool for 15 days,fever for 3 days" as main complain.There were no repeated oral ulcers or perianal lesions in the children.Cellular immunization results showed that total T lymphocyte was 1.19％ (normal range 64％ to 73％),adjuvant/inducible T lymphocyte was 0.16％ (normal range 29％ to 36％),and inhibitory/cytotoxic T lymphocyte was 0.99 (normal range 24 to 34),CD4/CD8 was 0.17 (normal range 1.6 to 2.2).Humoral immunity results showed a decrease in IgM,IgG,and IgE.Colonoscopy results revealed multiple ulcers in the colon.The immune PANEL results showed the IL2RG gene mutation (E5,c.675C＞T,pR226C),suggesting X-linked severe immunodeficiency disease.His mother also carried the pathogenic gene.Conclusions The mutation of IL2RG gene can cause X-linked severe combined immunodeficiency,and gene detection can be used to make a definite diagnose.For the first time reported in China,this case is also accompanied by infantile inflammatory bowel disease.
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