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-Ordóñez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, J.W.M.; Ameratunga, Rohan; M. Roifman, Chaim; Dinur Schejter, Yael; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; E. Schmidt, Reinhold; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; Alberto Pedroza, Luis; van der Flier, Michiel; Martínez‐Gallo, Mónica; Ignacio González‐Granado, Luis; M. Allende, Luís; Shcherbina, Anna; B. Kuzmenko, N.; Zakharova, V.P.; Farela Neves, João; Švec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Barış, Safa; Klein, Christoph; S. Geha, Raif; Chou, Janet; F. Alosaimi, Mohammed; Weintraub, Lauren; Boztuǧ, Kaan; Hirschmugl, Tatjana; Marluce dos Santos Vilela, Maria; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer‐Gibert, M.; Deyà‐Martínez, Àngela; Slade, C; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarström, Lennart; Kuismin, Outi; Helminen, Merja; Lango Allen, Hana; E. Thaventhiran, James; F. Freeman, Alexandra; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham‐Rundles, Charlotte; Patel, Niraj; Rae, William; Niehues, Tim; Brauer, Nina; Syrjänen, Jaana; Seppänen, Mikko; O. Burns, Siobhan; Tuijnenburg, Paul; W. Kuijpers, Taco; Warnatz, Klaus; Grimbacher, Bodo; Adhya, Zoe; Alachkar, Hana; Anantharachagan, Ariharan; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; J. Astle, William; Attwood, Anthony; Bacchelli, Chiara; Batista, Joana; Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boardman, Barbara; Booth, Claire; R. Bradley, John; Breen, Gerome; A. Brown, Matthew; J. Browning, Michael; Brownlie, Mary; Buckland, Matthew; O. Burns, Siobhan; S. Burren, Oliver; Carss, Keren; C. Chambers, John; Chandra, Anita; Clements Brod, Naomi; Clifford, Hayley; Cooper, Nichola; C. Daugherty, Louise; Graham Davies, E.; Davies, Sophie; M. Davis, John; Deacock, Sarah; V. V. Deevi, Sri; Dempster, John; Devlin, Lisa; Dewhurst, Eleanor; Downes, Kate; Drewe, Elizabeth; Duarte, Daniel; Edgar, David; L. Edwards, Karen; Egner, William; El‐Shanawany, Tariq; Erwood, Marie; Fletcher, Debra; W. Fox, James; Frary, Amy; Frontini, Mattia; Furnell, Abigail; Bobby Gaspar, H.; Ghurye, Rohit; Gilmour, Kimberly; Gleadall, Nicholas; Goddard, Sarah; Gordins, Pavels; Gräf, Stefan; Grassi, Luigi; Greene, Daniel; Grigoriadou, Sofia; Hackett, Scott; Hague, Rosie; Haimel, Matthias; Harper, Lorraine; Hayman, Grant; Herwadkar, Archana; Hu, Fengyuan; Hughes, Stephen; Huissoon, Aarnoud; James, Roger; Jolles, Stephen; Jolley, Jennifer; R. Jones, Julie; Yousuf Karim, Mohammed; Kasanicki, Mary; Kelleher, Peter; Kempster, Carly; Kiani, Sorena; Kingston, Nathalie; Klein, Nigel; Kostadima, Myrto; Kreuzhuber, Roman; W. Kuijpers, Taco; Kumararatne, Dinakantha; Laffan, James; Lango Allen, Hana; Lear, Sara; Linger, Rachel; Longhurst, Hilary; Lorenzo, Lorena; Lyons, Paul; Maimaris, Jesmeen; Manson, Ania; Mapeta, Rutendo; M. Martin, Jennifer; I. McCarthy, Mark; McDermott, Elizabeth; McKinney, Harriet; Meacham, Stuart; Mégy, Karyn; Millar, Hazel; Mistry, Anoop; Morrisson, Valerie; Murng, Sai; Nasir, Iman; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; H. Ouwehand, Willem; Papadia, Sofia; J. Penkett, Christopher; Petersen, R.; Ponsford, Mark; Qasim, Waseem; Quinn, Ellie; Quinti, Isabella; Lucy Raymond, F.; Rayner-Matthews, Paula; Richter, Alex; J. Samani, Nilesh; Samarghitean, Crina; Sanchis-Juan, Alba; Sargur, Ravishankar; Savic, Sinisa; L. Seneviratne, Suranjith; A. Sewell, William; Seyres, Denis; Shackley, Fiona; Shamardina, Olga; Simeoni, Ilenia; A. Simpson, Michael; G. C. Smith, Kenneth; Staines, Simon; Staples, Emily; Stark, Hannah; J. Stauss, Hans; Steele, Cathal; Stephens, Jonathan; Stirrups, Kathleen; E. Thaventhiran, James; Y. Thomas, David; Thomas, Moira; Thomas, Patrick; J. Thrasher, Adrian; Tilly, Tobias; Titterton, Catherine; Treadaway, Paul; Tuna, Salih; Turro, Ernest; Urniaż, Rafał; von Ziegenweidt, Julie; P. J. Walker, N.; D. Watt, Christopher; Welch, Steven; Whitehorn, Deborah; Willcocks, Lisa; Wood, Nicholas; Wood, Yvette; Workman, Sarita; Worth, Austen; Yates, Katherine; Yeatman, Nigel; Yong, Patrick; J. Young, Timothy; Yu, Ping; Zlamalova, Eliska

doi:10.1016/j.jaci.2019.11.051

Public

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

Published in Journal of Allergy and Clinical Immunology • Apr 9, 2020

Authors:

Tiziana Lorenzini

Manfred Fliegauf

Nils Klammer

Abstract

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...

Subject

Phenotype

Genetics

Biology

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