Severe combined immunodeficiency (SCID) is the most serious disorder among primary immunodeficiency diseases threatening children's life. Atypical SCID variant, presenting with mild reduced T cells subsets, is often associated with infection susceptibility but poor clinical diagnosis. The atypical X-SCID patient in the present study showed a mild clinical presentation with a (TNK+B+)-N-low immunophenotype. The patient has reduced T- cell subpopulations with a subdued thymic output measured by sjTRECs. Further analysis showed that T cells maintained a normal proliferation and a broad V beta repertoire. NK cells, however, exhibited a skewed development toward immature CD3(-)CD16(+)CD56(-) cells. Genetic analysis revealed a novel deletion at nucleotide 52 in exon 1 of IL2RG gene. Sequence alignment predicted a truncated IL2RG protein missing signal peptide derived from a possible alternative reading frame. The novel mutation in IL2RG gene identified in our study may help the early diagnosis of atypical X-SCID.
基金：
Beijing Children's Hospital, a teaching hospital affiliated to Capital Medical University; National Natural Science Foundation of ChinaNational Natural Science Foundation of China [31470862]
第一作者机构：[1]Capital Med Univ, Beijing Childrens Hosp, Minist Educ, Key Lab Major Dis Children, Beijing, Peoples R China;[2]Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Immunol Lab, Beijing 100045, Peoples R China;
通讯作者：
通讯机构：[1]Capital Med Univ, Beijing Childrens Hosp, Minist Educ, Key Lab Major Dis Children, Beijing, Peoples R China;[2]Capital Med Univ, Beijing Childrens Hosp, Beijing Pediat Res Inst, Immunol Lab, Beijing 100045, Peoples R China;
推荐引用方式(GB/T 7714)：
Mou Wenjun,He Jianxin,Chen Xi,et al.A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype[J].IMMUNOGENETICS.2017,69(1):29-38.doi:10.1007/s00251-016-0949-3.
APA：
Mou, Wenjun,He, Jianxin,Chen, Xi,Zhang, Hui,Ren, Xiaoya...&Gui, Jingang.(2017).A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.IMMUNOGENETICS,69,(1)
MLA：
Mou, Wenjun,et al."A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype".IMMUNOGENETICS 69..1(2017):29-38
