Combined immunodeficiency caused by a novel homozygous NFKB1 mutation
AB Mandola, N Sharfe, Z Nagdi, H Dadi, L Vong… - Journal of Allergy and …, 2021 - Elsevier
Background Genetic faults in several components of the nuclear factor-κB pathway cause
immunodeficiency. Most defects lead to combined immunodeficiency with a range of …
immunodeficiency. Most defects lead to combined immunodeficiency with a range of …
A Nonsense N–Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
HS Kuehn, A Bernasconi, JE Niemela… - Journal of clinical …, 2020 - Springer
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 …
processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 …
A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation
J Kotlinowski, K Bukowska-Strakova, A Koppolu… - Frontiers in …, 2019 - frontiersin.org
NF-κB signaling, acting through NFKB1 dependent canonical and NFKB2 dependent non-
canonical pathways plays a critical role in inflammatory and immune responses. Recent …
canonical pathways plays a critical role in inflammatory and immune responses. Recent …
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 …
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 …
pathway is a key regulator of immune responses. Accordingly, mutations in several NF-κB …
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
T Lorenzini, M Fliegauf, N Klammer, N Frede… - Journal of Allergy and …, 2020 - Elsevier
Background An increasing number of NFKB1 variants are being identified in patients with
heterogeneous immunologic phenotypes. Objective To characterize the clinical and cellular …
heterogeneous immunologic phenotypes. Objective To characterize the clinical and cellular …
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 …
The expanding spectrum of NFkB1 deficiency
To the Editor, In the last 10 years, the explosion of novel genetic etiologies of primary
immunodeficiencies (PIDs) has begun an evolution from a traditional broad descriptive …
immunodeficiencies (PIDs) has begun an evolution from a traditional broad descriptive …
[HTML][HTML] A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings
M Fusaro, C Coustal, L Barnabei, Q Riller, M Heller… - Clinical …, 2024 - Elsevier
Mutations in NFkB pathway genes can cause inborn errors of immunity (IEI), with NFKB1
haploinsufficiency being a significant etiology for common variable immunodeficiency …
haploinsufficiency being a significant etiology for common variable immunodeficiency …
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage
M Fliegauf, R Krüger, S Steiner, LG Hanitsch… - Frontiers in …, 2021 - frontiersin.org
In common variable immunodeficiency (CVID), heterozygous damaging NFKB1 variants
represent the most frequent monogenic cause. NFKB1 encodes the precursor p105, which …
represent the most frequent monogenic cause. NFKB1 encodes the precursor p105, which …