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; W.M. van der Meer, Jos; Ameratunga, Rohan; M. Roifman, Chaim; D. Schejter, Yael; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; E. Schmidt, Reinhold; Schröder, Claudia; Stepensky, Polina; Shadur, Bella; A. Pedroza, Luis; van der Flier, Michiel; Martínez-Gallo, Mónica; Ignacio Gonzalez-Granado, Luis; M. Allende, Luis; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Farela Neves, João; 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, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deyà-Martínez, Angela; A. Slade, Charlotte; 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; C. Patel, Niraj; Rae, William; Niehues, Tim; Brauer, Nina; Syrjänen, Jaana; R.J. 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; E. Baxendale, Helen; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boardman, Barbara; Booth, Claire; R. Bradley, John; Breen, Gerome; Brown, Matthew; J. Browning, Michael; Brownlie, Mary; S. Buckland, Matthew; O. Burns, Siobhan; S. Burren, Oliver; Carss, Keren; Chambers, John; Chandra, Anita; Clements Brod, Naomi; Clifford, Hayley; Cooper, Nichola; C. Daugherty, Louise; Davies, E.G.; Davies, Sophie; Davis, John; Deacock, Sarah; V.V. Deevi, Sri; Dempster, John; A. Devlin, Lisa; F. Dewhurst, Eleanor; Downes, Kate; Drewe, Elizabeth; Duarte, Daniel; David M. Edgar, J.; Edwards, Karen; Egner, William; El-Shanawany, Tariq; Erwood, Marie; Fletcher, Debra; Fox, James; J. Frary, Amy; Frontini, Mattia; Furnell, Abigail; Bobby Gaspar, H.; Ghurye, Rohit; C. Gilmour, Kimberly; S. 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; P. Huissoon, Aarnoud; James, Roger; Jolles, Stephen; Jolley, Jennifer; Jones, Julie; Karim, Yousuf; A. 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; E. Lear, Sara; Linger, Rachel; Longhurst, Hilary; E. Lorenzo, Lorena; A. Lyons, Paul; Maimaris, Jesmeen; Manson, Ania; Mapeta, Rutendo; Martin, Jennifer; I. McCarthy, Mark; M. McDermott, Elizabeth; McKinney, Harriet; Meacham, Stuart; Megy, Karyn; Millar, Hazel; Mistry, Anoop; Morrisson, Valerie; H.K. Murng, Sai; Nasir, Iman; Nejentsev, Sergey; Noorani, Sadia; Oksenhendler, Eric; H. Ouwehand, Willem; Papadia, Sofia; J. Penkett, Christopher; Petersen, Romina; J. Ponsford, Mark; Qasim, Waseem; Quinn, Ellen; Quinti, Isabella; Lucy Raymond, F.; J. Rayner-Matthews, Paula; Richter, Alex; Samani, Nilesh; Samarghitean, Crina; Sanchis-Juan, Alba; B. Sargur, Ravishankar; Savic, Sinisa

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

Shared by NobleBlocks on Oct 1, 2020 • 12:00 AM UTC

Authors:

Tiziana Lorenzini

Manfred Fliegauf

Nils Klammer

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