The mutational landscape of cold agglutinin disease: CARD11 and CXCR4 mutations are correlated with lower hemoglobin levels

Abstract excerpt

Primary cold agglutinin disease (CAD) is a rare autoimmune hemolytic anemia mediated by monoclonal IgM autoantibodies that bind to the blood group I antigen resulting in erythrocyte agglutination and complement activation. Primary cold agglutinin disease is caused by a unique indolent B-cell lymphoproliferative disorder of the bone marrow. We have previously reported recurrent KMT2D and CARD11 mutations in a...

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