Article
A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.
Immunogenetics - 1 Jan 2017
Mou Wenjun, He Jianxin, Chen Xi, Zhang Hui, Ren Xiaoya, Wu Xunyao, Ni Xin, Xu Baoping, Gui Jingang
Abstract excerpt
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...
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