A novel, heterozygous three base-pair deletion in CARD11 results in B cell expansion with NF-κB and T cell anergy disease

Adrian Shields, Bradly Bauman, Chantal Hargreaves, Andrew Pollard, Andrew Snow, Smita Y Patel

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    1 Citation (Scopus)
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    Abstract

    Germline gain-of-function mutations in CARD11 lead to the primary immunodeficiency, B cell expansion with NF-κB, and T cell anergy (BENTA). Herein, we report the case of a girl, presenting at 2 years of age with lymphocytosis and splenomegaly in whom a novel, in-frame, three base pair deletion in CARD11 was identified resulting in the deletion of a single lysine residue (K215del) from the coiled-coil domain. In vitro functional assays demonstrated that this variant leads to a subtle increase in baseline NF-κB signaling and impaired proliferative responses following T cell receptor and mitogenic stimulation. Previously reported immunological defects associated with BENTA appear mild in our patient who is now 6 years of age; a B cell lymphocytosis and susceptibility to upper respiratory tract infections persist; however, she has broad, sustained responses to protein-polysaccharide conjugate vaccines and displays normal proliferative responses to ex vivo T cell stimulation
    Original languageEnglish
    JournalJournal of Clinical Immunology
    Early online date2 Jan 2020
    DOIs
    Publication statusE-pub ahead of print - 2 Jan 2020

    Keywords

    • CARD11
    • BENTA
    • Primary immunodeficiency

    ASJC Scopus subject areas

    • Immunology and Allergy
    • Immunology

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