Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes - Kaustio, Meri; Haapaniemi, Emma; Göös, Helka; Hautala, Timo; Park, Giljun; Syrjänen, Jaana; Einarsdottir, Elisabet; Sahu, Biswajyoti; Kilpinen, Sanna; Rounioja, Samuli; Fogarty, Christopher L.; Glumoff, Virpi; et al. (Journal of allergy and clinical immunology, 2017)
Keywords: Adult; Aged; Allergy and Immunology; Autoimmune Diseases - genetics; Autoimmunity; autoinflammation; B cell; Behçet disease; Cell Line; Child; Cytokines; Deoxyribonucleic acid; Disease; DNA; Female; Gene expression; Heterozygote; Humans; hypogammaglobulinemia; Immune response; Immunodeficiency; Immunoglobulins; Immunologic Deficiency Syndromes - genetics; Inflammasomes; Inflammation; Inflammation - genetics; Kinases; Leukocytes, Mononuclear - metabolism; Linkage analysis; Lymphocytes B; Male; Mass spectroscopy; Middle Aged; Mutation; NF-kappa B - genetics; NFKB1; Nuclear factor κ light-chain enhancer of activated B cells; p105; p50; Phenotype; Phosphorylation; Proteasomes; Protein interaction; Proteins; Signal transduction; Surgery; Testing laboratories; Transcription; Transcription factors; Vasculitis; Vein & artery diseases; Germany; Behçet disease; autoinflammation; IKK; p50; hypogammaglobulinemia; WB; NFKB1; IκBα; B cell; NF-κB; p105; NLRP3; NEMO; WT; Nuclear factor κ light-chain enhancer of activated B cells; NF-κB inhibitor α; Inhibitor of κB kinase; NLR family pyrin domain containing 3; Western blotting; Wild-type; NF-κB essential modulator