NFKB1 Truncating Variants Associated with Significant Autoimmunity and Lymphoproliferation in Common Variable Immunodeficiency

Heterozygous NFKB1 variants have been increasingly identified in patients with common variable immunodeficiency. These patients, however, often experience substantial immune dysregulation beyond humoral deficiency. NFKB1 encodes p105, which undergoes proteolytic cleavage to release p50, the transcri...

Description complète

Détails bibliographiques

Auteurs principaux:	Chi Ma, Chen Wang, Jenna Bergerson, Alexandra Freeman, V. Koneti Rao, Gulbu Uzel
Format:	Artigo
Langue:	Inglês
Publié:	Rockefeller University Press 2026-05-01
Collection:	Journal of Human Immunity
Accès en ligne:	https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.222/282063/NFKB1-Truncating-Variants-Associated-with
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!