Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae - Tuovinen, Elina A.; Kuismin, Outi; Soikkonen, Leila; Martelius, Timi; Kaustio, Meri; Hämäläinen, Sari; Viskari, Hanna; Syrjänen, Jaana; Wartiovaara-Kautto, Ulla; Eklund, Kari K.; Saarela, Janna; Varjosalo, Markku; et al. (Clinical immunology (Orlando, Fla.), 2023)
Keywords: Agammaglobulinemia; Autoinflammation; Common variable immunodeficiency; Common Variable Immunodeficiency - genetics; Follow-Up Studies; Humans; Hypogammaglobulinemia; Immunologic Deficiency Syndromes - genetics; Inborn errors of immunity; NF-kappa B - genetics; NF-kappa B p50 Subunit - genetics; NFKB1; NF-κB; CVID; Common variable immunodeficiency; Autoinflammation; WBC; anti-PnP; Hypogammaglobulinemia; ERCP; Inborn errors of immunity; IEI; NFKB1