Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

• Published in: Journal of allergy and clinical immunology Vol. 131; no. 2; pp. 477 - 485.e1
• Main Authors: Stepensky, Polina, Keller, Baerbel, Buchta, Mary, Kienzler, Anne-Kathrin, Elpeleg, Orly, Somech, Raz, Cohen, Sivan, Shachar, Idit, Miosge, Lisa A., Schlesier, Michael, Fuchs, Ilka, Enders, Anselm, Eibel, Hermann, Grimbacher, Bodo, Warnatz, Klaus
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.02.2013; Elsevier; Elsevier Limited
• Subjects: Agammaglobulinemia - enzymology; Agammaglobulinemia - genetics; Agammaglobulinemia - immunology; Allergy and Immunology; antigens; B cell-activating factor receptor; B-lymphocytes; Biological and medical sciences; CARD Signaling Adaptor Proteins - deficiency; CARD Signaling Adaptor Proteins - genetics; CARD Signaling Adaptor Proteins - immunology; CARD11; caspases; combined immunodeficiency; cytokines; exons; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; germinal center; Guanylate Cyclase - deficiency; Guanylate Cyclase - genetics; Guanylate Cyclase - immunology; homozygosity; human; Humans; humoral immunity; hypogammaglobulinemia; immune response; Immune system; Immunologic Deficiency Syndromes - enzymology; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - immunology; Immunopathology; immunosuppression; inducible T-cell costimulator; Infant; Kinases; Lymphocytes; Medical sciences; nuclear factor κB; patients; Pneumocystis; pneumonia; profound combined immunodeficiency disorder; protein synthesis; Rodents; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Sequence Deletion; T cell receptors; T-lymphocytes; transcription factor NF-kappa B; transitional B cell; CD40L; TCR; nuclear factor κB; hypogammaglobulinemia; BCL10; MALT1; BAFF-R; NF-κB; FITC; transitional B cell; B cell-activating factor receptor; GC; ICOS; human; pCID; CID; gDNA; PMA; KREC; Treg; germinal center; inducible T-cell costimulator; BCR; APC; profound combined immunodeficiency disorder; PE; TREC; PerCP; NK; CARD11; combined immunodeficiency; ERK; Caspase recruitment domain family, member 11; T-cell receptor excision circle; Peridinin-chlorophyll-protein complex; T-cell receptor; Regulatory T; Natural killer; Fluorescein isothiocyanate; B-cell receptor; κ-Deleted receptor excision circle; Mucosa associated lymphoid tissue lymphoma translocation gene 1; Genomic DNA; Allophycocyanin; B cell–activating factor receptor; Extracellular signal-regulated kinase; B-cell lymphoma 10; CD40 ligand; Phycoerythrin; Phorbol 12-myristate 13-acetate; Cysteine endopeptidases; Recruitment; B cell activating factor receptor; Immunology; Cause; T-Lymphocyte; Family environment; Transcription factor NFκB; Human; Immunopathology; Enzyme; Germinative center; Family study; Deficiency; Agammaglobulinemia; Caspase; Inducible costimulator; B-Lymphocyte; Peptidases; Hydrolases; Combined immune deficiency

Profound combined immunodeficiency can present with normal numbers of T and B cells, and therefore the functional defect of the cellular and humoral immune response is often not recognized until the first severe clinical manifestation. Here we report a patient of consanguineous descent presenting at...