Genetic testing has increased the number of variants identified in disease genes, but the
diagnostic utility is limited by lack of understanding variant function. CARD11 encodes an …

CARD11-associated diseases are monogenic inborn errors of immunity involving
immunodeficiency, predisposition to malignancy and immune dysregulation such as …

CARD11 is a lymphocyte-specific scaffold molecule required for proper activation of B-and T-
cells in response to antigen. Germline gain-of-function (GOF) mutations in the CARD11 …

CARD11 functions as a key signaling scaffold that controls antigen-induced lymphocyte
activation during the adaptive immune response. Somatic mutations in CARD11 are …

Background Caspase activation and recruitment domain 11 (CARD11) encodes a scaffold
protein in lymphocytes that links antigen receptor engagement with downstream signaling to …

Purpose Activating germline mutations in CARD11 have recently been linked to a rare
genetic disorder associated with congenital B cell lymphocytosis. We describe a patient with …

Few monogenic causes for severe manifestations of common allergic diseases have been
identified. Through next-generation sequencing on a cohort of patients with severe atopic …

Background Germline pathogenic variants impairing the caspase recruitment domain family
member 11 (CARD11)–B cell chronic lymphocytic leukemia/lymphoma 10 (BCL10)–MALT1 …

Pathogenic CARD11 mutations cause aberrant nuclear factor κB (NF-κB) activation, which is
presumably responsible for multiple immunological disorders. However, whether there is an …

Background: Inherited CARD9 deficiency constitutes a primary immunodeficiency
predisposing uniquely to chronic and invasive fungal infections. Certain mutations are …