Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
Articolo
Data di Pubblicazione:
2020
Abstract:
An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunological phenotypes.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
NFKB1 variants and mutations; autosomal dominant inheritance; common variable immunodeficiency; reduced penetrance; variable expressivity
Elenco autori:
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
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