Monoallelic loss-of-function mutations in NFKB1 were recently recognized as the most
common monogenic cause of common variable immunodeficiency (CVID). The prototypic …

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

NFKB2 encodes the p100/p52 protein, a critical mediator of the canonical and noncanonical
NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child …

NFKB1, a component of the canonical NF-κB pathway, was recently reported to be mutated
in a limited number of CVID patients. CVID-associated mutations in NFKB2 (non-canonical …

Purpose NF-κB signaling is critically important for regulation of both innate and adaptive
immune responses. While activation of NF-κB has been implicated in malignancies such as …

The nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NF-κB1) is a
master regulator of immune and inflammatory responses. 1, 2 NF-κB1 belongs to the NF …

Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012)
belongs to the NF-κB family of transcription factors that play a critical role in inflammation …

Background Common variable immunodeficiency (CVID) with central adrenal insufficiency is
a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B …

Precise regulation of nuclear factor κB (NF-κB) signaling is crucial for normal immune
responses, and defective NF-κB activity underlies a range of immunodeficiencies. NF-κB is …

Genetic mutations account for many devastating early onset immune deficiencies. In
contrast, less severe and later onset immune diseases, including in patients with no prior …