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

• Main Authors: Lulu Yan (Author), Yan He (Author), Yuxin Zhang (Author), Yingwen Liu (Author), Limin Xu (Author), Chunxiao Han (Author), Yudan Zhao (Author), Haibo Li (Author)
• Format: Book
• Published: BMC, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...