Article
A novel linker region truncating variant in BCL10 underlies a leaky immunodeficiency phenotype.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Jul 2026
Tong Lin, Wei Qinglv, Li Yulin, Tian Zhirui, Dai Rongxin, Gong Xiaozhen, Feng Zijuan, Jia Yanjun, Du Hongqiang, Wu Junfeng, Yang Xi, An Yunfei, Zhao Xiaodong, Zhou Lina
Abstract excerpt
BACKGROUND: BCL10 is a core CBM (CARD-BCL10-MALT1) complex component required for antigen receptor-mediated NF-κB activation. BCL10 deficiency is an exceptionally rare autosomal recessive combined immunodeficiency, with only six patients reported to date. We aimed to characterize the clinical, immunologic, and molecular features of a novel homozygous BCL10 variant and explore mechanisms associated with its leaky...
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