J Allergy Clin Immunol 2021 Apr 16. Epub 2021 Apr 16.
Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, Vancouver, BC, Canada; Experimental Medicine Program, Faculty of Medicine, The University of British Columbia, Vancouver, BC, Canada. Electronic address:
Background: Germline pathogenic variants impairing the caspase recruitment domain family member 11 (CARD11)-B cell CLL/lymphoma 10 (BCL10)-MALT1 paracaspase (MALT1) [CBM] complex are associated with diverse human diseases including combined immunodeficiency (CID), atopy, and lymphoproliferation. However, the impact of CARD11 deficiency on human B cell development, signalling, and function is incompletely understood.
Objective: We sought to determine the cellular, immunological, and biochemical basis of disease for two unrelated patients who presented with profound CID associated with viral and fungal respiratory infections, interstitial lung disease, and severe colitis. Read More