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Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations, internal deletions, and frameshift variants. Collectively, these represent the most frequent monogenic cause of common variable immunodeficie...

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Principais autores: Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, Nadezhda Camacho-Ordonez, Hassan Abolhassani, Laia Alsina, Faranaz Atschekzei, Delfien J. Bogaert, Siobhan O. Burns, Joseph A. Church, Gregor Dückers, Alexandra F. Freeman, Lennart Hammarström, Leif Gunnar Hanitsch, Tessa Kerre, Robin Kobbe, Svetlana O. Sharapova, Kathrin Siepermann, Carsten Speckmann, Sophie Steiner, Nisha Verma, Jolan E. Walter, Emma Westermann-Clark, Sigune Goldacker, Klaus Warnatz, Markku Varjosalo, Bodo Grimbacher
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-08-01
coleção:Frontiers in Immunology
Assuntos:
primary immunodeficiency
inborn errors of immunity (IEI)
NFKB1
common variable immunodeficiency (CVID)
NF-kappaB signaling pathway
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fimmu.2022.965326/full
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