A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype

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• 作者：Wenjun Mou ; Jianxin He ; Xi Chen ; Hui Zhang ; Xiaoya Ren ; Xunyao Wu ; Xin Ni…
• 关键词：Primary immunodeficiency diseases ; Atypical SCID ; IL2RG gene ; X ; linked SCID ; Frameshift ; Signal peptide
• 刊名：Immunogenetics
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：69
• 期：1
• 页码：29-38
• 全文大小：
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Immunology; Human Genetics; Gene Function; Cell Biology; Allergology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1211
• 卷排序：69

文摘

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 TlowNK+B+ 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 Vβ 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.