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 StepenskyBella 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

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalJournal of Allergy and Clinical Immunology
Volume146
Issue number4
Pages (from-to)901-911
Number of pages11
ISSN0091-6749
DOIs
Publication statusPublished - Oct 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology
  • variants and mutations
  • common variable immunodeficiency
  • reduced penetrance
  • variable expressivity
  • autosomal dominant inheritance
  • CELLS
  • NF-KAPPA-B1
  • NF-kappa B1-related phenotype
  • NFKB1 variant
  • HAPLOINSUFFICIENCY
  • NUCLEAR-FACTOR
  • NFKB1 mutation
  • autosomal dominant
  • NF-KAPPA-B
  • IMMUNODEFICIENCY

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