Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity
G Sogkas, F Atschekzei, IR Adriawan… - Cellular & Molecular …, 2021 - nature.com
In addition to susceptibility to infections, conventional primary immunodeficiency disorders
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
(PIDs) and inborn errors of immunity (IEI) can cause immune dysregulation, manifesting as …
Interplay between epigenetic and genetic alterations in inborn errors of immunity
J Rodríguez-Ubreva, CL Calvillo, LRF Satter… - Trends in …, 2023 - cell.com
Inborn errors of immunity (IEIs) comprise a variety of immune conditions leading to
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …
infections, autoimmunity, allergy, and cancer. Some IEIs have no identified mutation (s) …
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 …
Primary immune regulatory disorders with an autoimmune lymphoproliferative syndrome-like phenotype: immunologic evaluation, early diagnosis and management
M López-Nevado, LI González-Granado… - Frontiers in …, 2021 - frontiersin.org
Primary immune regulatory disorders (PIRD) are associated with autoimmunity,
autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune …
autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune …
Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: experience from a …
J Rojas-Restrepo, A Caballero-Oteyza… - Frontiers in …, 2021 - frontiersin.org
Predominantly antibody deficiencies (PAD) are a heterogeneous group of disorders
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …
characterized by dysfunctional antibody production, low immunoglobulin levels in serum …
Common variable immunodeficiency-associated cancers: the role of clinical phenotypes, immunological and genetic factors
L Bruns, V Panagiota, S von Hardenberg… - Frontiers in …, 2022 - frontiersin.org
Objective The aim of this study was to investigate the prevalence of cancer and associating
clinical, immunological, and genetic factors in a German cohort of patients with common …
clinical, immunological, and genetic factors in a German cohort of patients with common …
[HTML][HTML] Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
EA Tuovinen, O Kuismin, L Soikkonen, T Martelius… - Clinical …, 2023 - Elsevier
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 …
conserved transcription factors are involved in key cellular signaling pathways. Previously …
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
Background Inborn errors of immunity (IEIs) encompass various diseases with diverse
clinical and immunological symptoms. Determining the genotype–phenotype of different …
clinical and immunological symptoms. Determining the genotype–phenotype of different …
How do nuclear factor kappa B (NF-κB) 1 and NF-κB2 defects lead to the incidence of clinical and immunological manifestations of inborn errors of immunity?
N Fathi, H Mojtahedi, M Nasiri… - Expert Review of …, 2023 - Taylor & Francis
Introduction Genetic defects affect the manner of the immune system's development,
activation, and function. Nuclear factor-kappa B subunit 1 (NF-κB1) and NF-κB2 are involved …
activation, and function. Nuclear factor-kappa B subunit 1 (NF-κB1) and NF-κB2 are involved …
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 …