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

doi:10.1084/jem.20210566

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Article

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

The Journal of experimental medicine - 1 Nov 2021

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

Abstract excerpt

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...

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PMID: 34473196
DOI: 10.1084/jem.20210566
PMCID: PMC8421261

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