X染色体连锁T-B+严重联合免疫缺陷1例报告及文献复习  

X-linked T-B+ severe combined immunodeficiency:report of a case and review of literature

作　　者：沈小钰[1] 殷蕾[1] 王剑[1] 周云芳[1] 沈永年[1] 应大明[1] 黄荣魁[1] 陈惠金[1] 

机构地区：[1]上海交通大学医学院附属上海儿童医学中心罕见病疑难病特需门诊,上海200127

出　　处：《诊断学理论与实践》2014年第6期575-578,共4页Journal of Diagnostics Concepts & Practice

摘　　要：目的:分析1例临床罕见的X染色体连锁T-B+严重联合免疫缺陷病(X-linked T-B+severe combined immunodeficiency,X-SCID)患者的主要特征和诊治要点。方法:整理1例X-SCID患者的临床资料及流式细胞术检测和IL2RG基因分析结果,并结合相关文献进行分析。结果:患者为3个月17 d的男婴,出生后1个月始反复出现口腔溃疡、发热及难治性腹泻,实验室检查结果显示其体液及细胞免疫功能均低下,基因分析证实其存在IL2RG基因突变,确诊为X-SCID。结论:X-SCID的主要临床表现为,男性患儿在出生后早期即可发生严重的致死性感染,腹泻迁延不愈,体液和细胞免疫缺陷。该疾病可通过基因分析确诊,而早期诊断和及时进行骨髓移植可改善患儿的预后。Objective： To investigate the characteristics and essential points of diagnosis and treatment of X-linked T-B＋ severe combined immunodeficiency （X-SCID）, a rare inherited immunodeficiency disorder. Methods： The clinical manifestations, results of flow cytometry, and mutation analysis of IL2RG gene from a boy with X-SCID were analyzed, and relevant literatures were reviewed. Results： A three-month and seventeen-day boy experiencing recurrent oral ulcer, fever and intractable diarrhea since his one month of age was reported. Laboratory tests and flow cytometry results showed de- fects in both cellular and humoral immune function. The boy was diagnosed as X-SCID based on positive mutation identi- fied in IL2RG gene. Conclusions： X-SCID is characterized by severe and recurrent infections, intractable diarrhea, and defects in cellular and humoral immune function within the first month of life in male infant, and can be diagnosed by mutation analysis of IL2RG gene. A better prognosis of infant with X-SCID depends on early diagnosis and timely bone marrow transplantation treatment.

关 键 词：严重联合免疫缺陷 基因分析 骨髓移植 

分 类 号：R394.1[医药卫生—医学遗传学]