Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.

doi:10.1016/j.jaci.2021.04.006

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Article

Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency.

The Journal of allergy and clinical immunology - 1 Dec 2021

Lu Henry Y, Sharma Mehul, Sharma Ashish A, Lacson Atilano, Szpurko Ashley, Luider Joanne, Dharmani-Khan Poonam, Shameli Afshin, Bell Peter A, Guilcher Gregory M T, Lewis Victor A, Vasquez Marta Rojas, Desai Sunil, McGonigle Lyle, Murguia-Favela Luis, Wright Nicola A M, Sergi Consolato, Wine Eytan, Overall Christopher M, Suresh Sneha, Turvey Stuart E

Abstract excerpt

BACKGROUND: Germline pathogenic variants impairing the caspase recruitment domain family member 11 (CARD11)-B cell chronic lymphocytic leukemia/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, signaling, and function...

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PMID: 33872653
DOI: 10.1016/j.jaci.2021.04.006

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