生物
免疫缺陷
CD8型
免疫学
错义突变
免疫系统
突变
遗传学
基因
作者
Emily S.J. Edwards,Samar Ojaimi,James Ngui,Go Hun Seo,Jihye Kim,Sanjeev Chunilal,Deborah Yablonski,Robyn E. O’Hehir,Menno C. van Zelm
标识
DOI:10.1016/j.jaci.2023.04.020
摘要
Biallelic variants in LCP2 impair neutrophil function and T-cell and B-cell antigen-receptor signaling and can cause combined immunodeficiency with early-onset immune dysregulation, even in the absence of platelet defects.
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