The Editors ’ Choice

In 2015, heterozygous mutations in NFKB1, encoding the central component of the canonical NF- κB pathway, were identified in families with an autosomal-dominant form of common variable immunodeficiency (CVID), the most common primary immunodeficiency. Subsequently, NFKB1 defects were recognized to be associated with highly variable phenotypes, ranging from severe immune dysregulation involv ing almost any organ to nearly clinically unapparent disease. In this issue of the Journal, Lorenzini et al (p 901) describe the spectrum of this rare monogenetic condition in an international cohort comprising 231 individuals with NFKB1 variants compiled by 75 investigators, mainly from primary im munodeficiency centers.

Source: Journal of Allergy and Clinical Immunology - September 30, 2020 Category: Allergy & Immunology Authors: Zuhair K. Ballas, Associate Editors of the JACI Tags: The Editors ’ Choice Source Type: research