A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report

Abstract Background Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infectio...

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Päätekijät: Lulu Yan (Tekijä), Yan He (Tekijä), Yuxin Zhang (Tekijä), Yingwen Liu (Tekijä), Limin Xu (Tekijä), Chunxiao Han (Tekijä), Yudan Zhao (Tekijä), Haibo Li (Tekijä)
Aineistotyyppi: Kirja
Julkaistu: BMC, 2023-12-01T00:00:00Z.
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