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

Tiziana Lorenzini,Manfred Fliegauf, Nils Klammer,Natalie Frede,Michele Proietti,Alla Bulashevska,Nadezhda Camacho-Ordonez,Markku Varjosalo,Matias Kinnunen,Esther de Vries,Jos W M van der Meer,Rohan Ameratunga,Chaim M Roifman,Yael D Schejter,Robin Kobbe,Timo Hautala,Faranaz Atschekzei,Reinhold E Schmidt,Claudia Schröder,Polina Stepensky,Bella Shadur,Luis A Pedroza,Michiel van der Flier,Mónica Martínez-Gallo,Luis Ignacio Gonzalez-Granado,Luis M Allende,Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova,João Farela Neves,Peter Svec,Ute Fischer,Winnie Ip,Oliver Bartsch,Safa Barış,Christoph Klein,Raif Geha,Janet Chou,Mohammed Alosaimi,Lauren Weintraub,Kaan Boztug,Tatjana Hirschmugl,Maria Marluce Dos Santos Vilela,Dirk Holzinger,Maximilian Seidl,Vassilios Lougaris,Alessandro Plebani,Laia Alsina, Monica Piquer-Gibert,Angela Deyà-Martínez,Charlotte A Slade,Asghar Aghamohammadi,Hassan Abolhassani,Lennart Hammarström,Outi Kuismin,Merja Helminen,Hana Lango Allen,James E Thaventhiran,Alexandra F Freeman,Matthew Cook,Shahrzad Bakhtiar,Mette Christiansen,Charlotte Cunningham-Rundles,Niraj C Patel,William Rae,Tim Niehues, Nina Brauer,Jaana Syrjänen,Mikko R J Seppänen,Siobhan O Burns,Paul Tuijnenburg,Taco W Kuijpers,Klaus Warnatz,Bodo Grimbacher

Journal of Allergy and Clinical Immunology（2020）

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摘要

We present a comprehensive clinical overview of the NF-κB1-related phenotype, which includes immunodeficiency, autoimmunity, autoinflammation, and cancer. Due to its multi-system involvement, clinicians from each and every medical discipline need to be made aware of this autosomal-dominant disease. Hematopoietic stem cell transplantation and NF-κB1 pathway-targeted therapeutic strategies should be considered in the future.

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关键词

NFKB1 variant,NFKB1 mutation,common variable immunodeficiency,reduced penetrance,NF-κB1-related phenotype,autosomal dominant

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