In common variable immunodeficiency (CVID), heterozygous damaging NFKB1 variants
represent the most frequent monogenic cause. NFKB1 encodes the precursor p105, which …

NF-κB signaling, acting through NFKB1 dependent canonical and NFKB2 dependent non-
canonical pathways plays a critical role in inflammatory and immune responses. Recent …

The noncanonical NF-κB pathway is implicated in diverse biological and immunological
processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 …

NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent
noncanonical pathways plays distinctive roles in a diverse range of immune processes …

Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B
subunit 1) variants comprise deleterious defects such as severe truncations, internal …

Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic
etiology of common variable immunodeficiency (CVID). However, the causal link between …

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
antibody deficiency, poor humoral response to antigens, and recurrent infections. To …

Mutations in NFkB pathway genes can cause inborn errors of immunity (IEI), with NFKB1
haploinsufficiency being a significant etiology for common variable immunodeficiency …

Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous
mutations in NFKB2 have recently been established as a molecular cause of common …

Nuclear factor κ light-chain enhancer of activated B cells (NF-κB) family of evolutionarily
conserved transcription factors are involved in key cellular signaling pathways. Previously …