Ontology highlight
ABSTRACT:
SUBMITTER: Li J
PROVIDER: S-EPMC8421261 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature
Li Juan J Lei Wei-Te WT Zhang Peng P Rapaport Franck F Seeleuthner Yoann Y Lyu Bingnan B Asano Takaki T Rosain Jérémie J Hammadi Boualem B Zhang Yu Y Pelham Simon J SJ Spaan András N AN Migaud Mélanie M Hum David D Bigio Benedetta B Chrabieh Maya M Béziat Vivien V Bustamante Jacinta J Zhang Shen-Ying SY Jouanguy Emmanuelle E Boisson-Dupuis Stephanie S El Baghdadi Jamila J Aimanianda Vishukumar V Thoma Katharina K Fliegauf Manfred M Grimbacher Bodo B Korganow Anne-Sophie AS Saunders Carol C Rao V Koneti VK Uzel Gulbu G Freeman Alexandra F AF Holland Steven M SM Su Helen C HC Cunningham-Rundles Charlotte C Fieschi Claire C Abel Laurent L Puel Anne A Cobat Aurélie A Casanova Jean-Laurent JL Zhang Qian Q Boisson Bertrand B
The Journal of experimental medicine 20210902 11
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, and there has been insufficient biochemical characterization and enrichment analysis. We show that the cotransfection of NFKB1-deficient HEK293T cells (lacking both p105 and its cleaved form p50) with a κB reporter, NFKB1/p105, and a homodimerization ...[more]