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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Detalles Bibliográficos
Autores principales: Fliegauf, Manfred, Kinnunen, Matias, Posadas-Cantera, Sara, Camacho-Ordonez, Nadezhda, Abolhassani, Hassan, Alsina, Laia, Atschekzei, Faranaz, Bogaert, Delfien J., Burns, Siobhan O., Church, Joseph A., Dückers, Gregor, Freeman, Alexandra F., Hammarström, Lennart, Hanitsch, Leif Gunnar, Kerre, Tessa, Kobbe, Robin, Sharapova, Svetlana O., Siepermann, Kathrin, Speckmann, Carsten, Steiner, Sophie, Verma, Nisha, Walter, Jolan E., Westermann-Clark, Emma, Goldacker, Sigune, Warnatz, Klaus, Varjosalo, Markku, Grimbacher, Bodo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465457/
https://www.ncbi.nlm.nih.gov/pubmed/36105815
http://dx.doi.org/10.3389/fimmu.2022.965326

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9465457/
https://www.ncbi.nlm.nih.gov/pubmed/36105815
http://dx.doi.org/10.3389/fimmu.2022.965326

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