title: A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.
abstract: 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.
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Wenjun
authors: W
authors: Mou
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Department of Pulmonary Medicine, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Jianxin
authors: J
authors: He
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Xi
authors: X
authors: Chen
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Hui
authors: H
authors: Zhang
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Xiaoya
authors: X
authors: Ren
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Xunyao
authors: X
authors: Wu
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors: Xin
authors: X
authors: Ni
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China.|Department of Pulmonary Medicine, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China.
authors: Baoping
authors: B
authors: Xu
authors: Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing Children's Hospital, Capital Medical University, Beijing, China. guijingang@bch.com.cn.|Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing, 100045, China. guijingang@bch.com.cn.
authors: Jingang
authors: J
authors: Gui
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D002454:Cell Differentiation; D049109:Cell Proliferation; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000473:pathology; D013601:T-Lymphocytes; D053632:X-Linked Combined Immunodeficiency Diseases / Q000235:genetics* / Q000473:pathology
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit
keywords: Atypical SCID; Frameshift; IL2RG gene; Primary immunodeficiency diseases; Signal peptide; X-linked SCID