Article
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
The Journal of allergy and clinical immunology - 1 Oct 2020
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, Schröder Claudia, Stepensky Polina, Shadur Bella, Pedroza Luis A, van der Flier Michiel, Martínez-Gallo Mónica, Gonzalez-Granado Luis Ignacio, Allende Luis M, Shcherbina Anna, Kuzmenko Natalia, Zakharova Victoria, Neves João 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, Dos Santos Vilela Maria Marluce, Holzinger Dirk, Seidl Maximilian, Lougaris Vassilios, Plebani Alessandro, Alsina Laia, Piquer-Gibert Monica, Deyà-Martínez Angela, Slade Charlotte A, Aghamohammadi Asghar, Abolhassani Hassan, Hammarström Lennart, Kuismin Outi, Helminen Merja, Allen Hana Lango, Thaventhiran James E, Freeman Alexandra F, Cook Matthew, Bakhtiar Shahrzad, Christiansen Mette, Cunningham-Rundles Charlotte, Patel Niraj C, Rae William, Niehues Tim, Brauer Nina, Syrjänen Jaana, Seppänen Mikko R J, Burns Siobhan O, Tuijnenburg Paul, Kuijpers Taco W, Warnatz Klaus, Grimbacher Bodo
Abstract excerpt
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...
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