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Kaisa Kettunen

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Open access Aug 2026

A Novel Dominant-negative CARD11 Variant Causes Atopy and Immunodeficiency Syndrome

CARD11 is a multidomain scaffolding protein essential for antigen receptor-induced NF-κB signaling in lymphocytes. CARD11 is highly intolerant to mutations, and pathogenic variants have been implicated in various immune-related disorders. In this study, we describe a family with a novel CARD11 missense variant,...

K. M. Le, B. Lindsay, Bradly M. Bauman et al. · 0 citations

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