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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
Tuijnenburg P, Lango Allen H, Burns SO, Greene D, Jansen MH, Staples E, Stephens J, Carss KJ, Biasci D, Baxendale H, Thomas M, Chandra A, Kiani-Alikhan S, Longhurst HJ, Seneviratne SL, Oksenhendler E, Simeoni I, de Bree GJ, Tool ATJ, van Leeuwen EMM, Ebberink EHTM, Meijer AB, Tuna S, Whitehorn D, Brown M, Turro E, Thrasher AJ, Smith KGC, Thaventhiran JE, Kuijpers TW; NIHR BioResource–Rare Diseases Consortium. Tuijnenburg P, et al. Among authors: longhurst hj. J Allergy Clin Immunol. 2018 Oct;142(4):1285-1296. doi: 10.1016/j.jaci.2018.01.039. Epub 2018 Mar 2. J Allergy Clin Immunol. 2018. PMID: 29477724 Free PMC article.
CRISPR-Based Therapy for Hereditary Angioedema.
Cohn DM, Gurugama P, Magerl M, Katelaris CH, Launay D, Bouillet L, Petersen RS, Lindsay K, Aygören-Pürsün E, Maag D, Butler JS, Shah MY, Golden A, Xu Y, Abdelhady AM, Lebwohl D, Longhurst HJ. Cohn DM, et al. Among authors: longhurst hj. N Engl J Med. 2024 Oct 24. doi: 10.1056/NEJMoa2405734. Online ahead of print. N Engl J Med. 2024. PMID: 39445704
103 results