P. Huttunen

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,...