Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency
Autosomal dominant (AD) NFKB1 deficiency is thought to be the most common genetic
etiology of common variable immunodeficiency (CVID). However, the causal link between …
etiology of common variable immunodeficiency (CVID). However, the causal link between …
[HTML][HTML] Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
antibody deficiency, poor humoral response to antigens, and recurrent infections. To …
antibody deficiency, poor humoral response to antigens, and recurrent infections. To …
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 …
noncanonical pathways plays distinctive roles in a diverse range of immune processes …
[HTML][HTML] 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 …
most prevalent symptomatic antibody deficiency. In∼ 90% of CVID-affected individuals, no …
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations
R Dieli-Crimi, M Martínez-Gallo, C Franco-Jarava… - Clinical …, 2018 - Elsevier
Monoallelic loss-of-function mutations in NFKB1 were recently recognized as the most
common monogenic cause of common variable immunodeficiency (CVID). The prototypic …
common monogenic cause of common variable immunodeficiency (CVID). The prototypic …
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 …
and genetically. The majority of genetic mechanisms leading to CVID remain elusive. We …
[HTML][HTML] 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 …
mutations in NFKB2 have recently been established as a molecular cause of common …
[HTML][HTML] Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1
Adult-onset primary immunodeficiency is characterized by recurrent infections,
hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have …
hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have …
[HTML][HTML] Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Background The genetic cause of primary immunodeficiency disease (PID) carries
prognostic information. Objective We conducted a whole-genome sequencing study …
prognostic information. Objective We conducted a whole-genome sequencing study …
Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation
AW Lindsley, Y Qian, CA Valencia, K Shah… - Journal of clinical …, 2014 - Springer
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 …
NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child …