A Novel Deletion Mutation in IL2RG Gene Results in X-linked Severe Combined Immunodeficiency with an Atypical Phenotype

Overview

Journal Immunogenetics

Specialties Allergy & Immunology
Genetics

Date 2016 Aug 28

PMID 27566612

Citations 9

Authors

Wenjun Mou

Jianxin He

Xi Chen

Hui Zhang

Xiaoya Ren

Xunyao Wu

Xin Ni

BaoPing Xu

Jingang Gui

Affiliations

Soon will be listed here.

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 TNKB 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 CD3CD16CD56 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.

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