ArticlePediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology2026
A novel linker region truncating variant in BCL10 underlies a leaky immunodeficiency phenotype.
Article in Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- 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 · 2026Article
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14 authors.
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Abstract
backgroundBCL10 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 phenotype.
methodsClinical/immunologic phenotyping, whole-exome and Sanger sequencing, transcript and protein studies, signaling, cytokine, and T cell proliferation assays, and scRNA-seq were performed.
resultsA novel homozygous BCL10 c.345_346dup (p.Gly116GlufsTer3) variant was identified in a patient with combined immunodeficiency and immune dysregulation, with relatively mild infections, terminal effector-skewed lymphocytes, and partial Treg preservation. In PBMCs, the variant reduced full-length BCL10 transcripts and BCL10 protein while increasing N-terminal transcripts; HEK293T overexpression showed that the mutant construct could produce a low-abundance truncated protein in vitro. NF-κB signaling was stimulus dependent, with near-absent p-p65 induction in T cells after PMA/ionomycin but relative preservation or enhancement after TNF-α or LPS. T cell proliferation was partially preserved with anti-CD3/CD28 but nearly absent with anti-CD3 alone. ScRNA-seq revealed aberrant Treg-associated gene expression, increased activation/apoptosis/senescence programs in T and NK cells, enhanced inflammatory signaling in B cells and monocytes, and enrichment of AP-1/MAPK, inflammatory NF-κB, and IFN-response pathways.
conclusionThis novel linker-region truncating BCL10 variant was associated with leaky combined immunodeficiency with immune dysregulation. Defective CBM-dependent NF-κB activation coexisted with secondary activation of CBM-independent inflammatory and AP-1/MAPK-related programs, suggesting that inflammatory remodeling may contribute to the nonclassical phenotype.
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