Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency

Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic etiology of common variable immunodeficiency (CVID). However, the causal link between NFKB1 variants and CVID has not been demonstrated experimentally and genetically, as there has been insufficient biochemical charact...

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Autores principales: Li, Juan, Lei, Wei-Te, Zhang, Peng, Rapaport, Franck, Seeleuthner, Yoann, Lyu, Bingnan, Asano, Takaki, Rosain, Jérémie, Hammadi, Boualem, Zhang, Yu, Pelham, Simon J., Spaan, András N., Migaud, Mélanie, Hum, David, Bigio, Benedetta, Chrabieh, Maya, Béziat, Vivien, Bustamante, Jacinta, Zhang, Shen-Ying, Jouanguy, Emmanuelle, Boisson-Dupuis, Stephanie, El Baghdadi, Jamila, Aimanianda, Vishukumar, Thoma, Katharina, Fliegauf, Manfred, Grimbacher, Bodo, Korganow, Anne-Sophie, Saunders, Carol, Rao, V. Koneti, Uzel, Gulbu, Freeman, Alexandra F., Holland, Steven M., Su, Helen C., Cunningham-Rundles, Charlotte, Fieschi, Claire, Abel, Laurent, Puel, Anne, Cobat, Aurélie, Casanova, Jean-Laurent, Zhang, Qian, Boisson, Bertrand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8421261/
https://www.ncbi.nlm.nih.gov/pubmed/34473196
http://dx.doi.org/10.1084/jem.20210566

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