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. 2025 Jan 4;12(5):101515.
doi: 10.1016/j.gendis.2025.101515. eCollection 2025 Sep.

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency

Feng Ding  1 , He Zhang  1 , Xiangxiang Liu  1 , Lin Lei  2 , Hongyi Zhang  2 , Zhichao Liu  2 , Mutong Fang  2 , Shuihua Lu  1   2
Affiliations

Identification of a splice site mutation in IL2RG in a Chinese boy with X-linked severe combined immunodeficiency

Feng Ding et al. Genes Dis. .
No abstract available

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Conflict of interest statement

The authors declared no conflict of interests.

Figures

Figure 1
Figure 1
A X-SCID patient with hemizygous splice site mutation in IL2RG. (A) Chest computed tomography scan of the proband. (B) Genomic sequence of IL2RG gene in the proband carrying the hemizygous splice site mutation and his parents. The red box indicates the position where the nucleotide variant is located. (C) Schemes of novel IL2RG mRNA transcripts showing the intron retention identified by RNA sequencing in the proband (upper panel), compared with the normal mRNA transcripts identified in his mother (bottom panel). The red box indicates the identified intron retention. (D) UMAP plot of single-cell RNA sequencing data of peripheral blood mononuclear cells from the proband (P1) and the mother (C1). NK, natural killer; NKT, natural killer T; HSC, hematopoietic stem cells. (E) Gene ontology (biological processes) enrichment analysis based on differentially expressed genes (DEGs) of B cells. The size of the dots represents the number of genes in the significant DEG gene list associated with the gene ontology term and the color of the dots represents the P-adjusted values. (F) UMAP plot of T cell and B cell subpopulations in the peripheral blood mononuclear cells in (D). Tfh, T follicular helper cell; Treg, regulatory T cell; IFN, interferon.
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References

    1. Leonard W.J., Lin J.X., O'Shea J.J. The γc family of cytokines: basic biology to therapeutic ramifications. Immunity. 2019;50(4):832–850. - PubMed
    1. Puck J.M., Pepper A.E., Henthorn P.S., et al. Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. Blood. 1997;89(6):1968–1977. - PubMed
    1. Noguchi M., Yi H., Rosenblatt H.M., et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. Cell. 1993;73(1):147–157. - PubMed
    1. Yamashita M., Wakatsuki R., Kato T., et al. A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency. Int J Hematol. 2019;109(5):603–611. - PubMed
    1. Wirka R.C., Pjanic M., Quertermous T. Advances in transcriptomics: investigating cardiovascular disease at unprecedented resolution. Circ Res. 2018;122(9):1200–1220. - PMC - PubMed

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