Haploinsufficiency of the NF-κB1 subunit p50 in common variable immunodeficiency

M Fliegauf, VL Bryant, N Frede, C Slade… - The American Journal of …, 2015 - cell.com
Common variable immunodeficiency (CVID), characterized by recurrent infections, is the
most prevalent symptomatic antibody deficiency. In∼ 90% of CVID-affected individuals, no …

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency

K Chen, EM Coonrod, A Kumánovics, ZF Franks… - The American Journal of …, 2013 - cell.com
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
antibody deficiency, poor humoral response to antigens, and recurrent infections. To …

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

J Li, WT Lei, P Zhang, F Rapaport… - Journal of Experimental …, 2021 - rupress.org
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic
etiology of common variable immunodeficiency (CVID). However, the causal link between …

Novel NFKB2 Mutation in Early-Onset CVID

Y Liu, S Hanson, P Gurugama, A Jones, B Clark… - Journal of clinical …, 2014 - Springer
Common variable immunodeficiency (CVID) is heterogeneous, clinically, immunologically
and genetically. The majority of genetic mechanisms leading to CVID remain elusive. We …

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype

HS Kuehn, JE Niemela, K Sreedhara… - Blood, The Journal …, 2017 - ashpublications.org
NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent
noncanonical pathways plays distinctive roles in a diverse range of immune processes …

Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2

C Klemann, N Camacho-Ordonez, L Yang… - Frontiers in …, 2019 - frontiersin.org
Non-canonical NF-κB-pathway signaling is integral in immunoregulation. Heterozygous
mutations in NFKB2 have recently been established as a molecular cause of common …

[HTML][HTML] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

P Tuijnenburg, HL Allen, SO Burns, D Greene… - Journal of allergy and …, 2018 - Elsevier
Background The genetic cause of primary immunodeficiency disease (PID) carries
prognostic information. Objective We conducted a whole-genome sequencing study …

NF-κB1 haploinsufficiency causing immunodeficiency and EBV-driven lymphoproliferation

H Boztug, T Hirschmugl, W Holter, K Lakatos… - Journal of clinical …, 2016 - Springer
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 …

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

M Kaustio, E Haapaniemi, H Göös, T Hautala… - Journal of Allergy and …, 2017 - Elsevier
Background The nuclear factor κ light-chain enhancer of activated B cells (NF-κB) signaling
pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB …

Assessing disease severity in common variable immunodeficiency disorders (CVID) and CVID-like disorders

R Ameratunga - Frontiers in immunology, 2018 - frontiersin.org
Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic
primary immune deficiency (PID) in adults. Current estimates suggest a prevalence of∼ 1 …