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

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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Bibliographic Details
Main Authors: Lulu Yan, Yan He, Yuxin Zhang, Yingwen Liu, Limin Xu, Chunxiao Han, Yudan Zhao, Haibo Li
Format: Article
Language:English
Published: BMC 2023-12-01
Series:BMC Medical Genomics
Subjects:
IL7R
Severe combined immunodeficiency
Whole exome sequencing
Chromosome microarray analysis
Splicing variant
Online Access:https://doi.org/10.1186/s12920-023-01765-8

Internet

https://doi.org/10.1186/s12920-023-01765-8

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