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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; Van Der Meer, Jos W M; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schroder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; van der Flier, Michiel; Martinez-Gallo, Monica; Gonzalez-Granado, Luis Ignacio; Allende, Luis; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, Joao Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Barış, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Marluce Dos Santos Vilela, Maria; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, A.; Alsina, Laia; Piquer-Gibert, Monica; Deya-Martinez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarstrom, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra; Cook, Matthew

Description

Background An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. Objective To characterize the clinical and cellular phenotype as well as the management of patients with heterozygous NFKB1 mutations. Methods In a worldwide collaborative effort, we evaluated 231 individuals harboring 105 distinct heterozygous NFKB1 variants. To provide evidence for pathogenicity, each variant was assessed in silico; in addition, 32 variants...[Show more]

CollectionsANU Research Publications
Date published: 2020
Type: Journal article
URI: http://hdl.handle.net/1885/212404
Source: Journal of Allergy and Clinical Immunology
DOI: 10.1016/j.jaci.2019.11.051

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