Article
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.
The Journal of allergy and clinical immunology - 1 Oct 2018
Tuijnenburg Paul, Lango Allen Hana, Burns Siobhan O, Greene Daniel, Jansen Machiel H, Staples Emily, Stephens Jonathan, Carss Keren J, Biasci Daniele, Baxendale Helen, Thomas Moira, Chandra Anita, Kiani-Alikhan Sorena, Longhurst Hilary J, Seneviratne Suranjith L, Oksenhendler Eric, Simeoni Ilenia, de Bree Godelieve J, Tool Anton T J, van Leeuwen Ester M M, Ebberink Eduard H T M, Meijer Alexander B, Tuna Salih, Whitehorn Deborah, Brown Matthew, Turro Ernest, Thrasher Adrian J, Smith Kenneth G C, Thaventhiran James E, Kuijpers Taco W
Abstract excerpt
BACKGROUND: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. OBJECTIVE: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort. METHODS: In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1)...
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