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Article

Mechanistic Insights Into Immune Cell Dysregulation Mediated by Novel Heterozygous Variants in CARD11 and MALT1.

Journal of clinical immunology - 26 Mar 2026

Li Rui, Sun Xiaochen, Bao Wei, Yu Haolan, Dan YuQing, Wu Chunmei, Ma Yan, Yin Hanlin, Lin Wanyi, Lu Liangjing, Fu Qiong, Yang Chenghua

Abstract excerpt

Dysregulation of the CARD11-BCL10-MALT1 (CBM) complex is associated with a group of inborn errors of immunity termed “CBM-opathies,” which encompass a spectrum of clinical manifestations including combined immunodeficiency, autoimmune inflammation, atopic disorders, and lymphoproliferation. In this study, we identified novel compound heterozygous variants in the CBM complex in a patient with a family history of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41882201
DOI: 10.1007/s10875-026-02011-3
PMCID: PMC13086744

Genes

MALT1
CARD11
BCL10
CD247

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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