Associated Papers
Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.
Anh PNL et al.
Orphanet Journal of Rare Diseases, 2026
Genetics in a Danish Common Variable Immunodeficiency Cohort.
Drabe CH et al.
Journal of Clinical Immunology, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Riller Q et al.
The Journal of Experimental Medicine, 2025
Intrinsic functional defects in B cells of patients with NFKB2 mutations.
Min Q et al.
Clinical and Experimental Immunology, 2025
Type-Specific Impacts of Protein Defects in Pathogenic NFKB2 Variants: Novel Clinical Findings From 138 Patients.
Meissner J et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.
Baran A et al.
Journal of Clinical Immunology, 2024
Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Le Voyer T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.
Aygun A et al.
Immunologic Research, 2024
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T et al.
Nature, 2023
Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports.
Mac TT et al.
Journal of Neuroendocrinology, 2023
Case Report: Mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation.
Spangenberg MN et al.
Frontiers in Oncology, 2023
The search for a unifying diagnosis involving neurological, endocrine and immune dysfunction: a case report of a novel presentation of DAVID syndrome.
Price M et al.
Bmc Pediatrics, 2022
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.
Wirasinha RC et al.
The Journal of Experimental Medicine, 2021
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn HS et al.
Journal of Clinical Immunology, 2020
NFKB2 regulates human Tfh and Tfr pool formation and germinal center potential.
De Leo P et al.
Clinical Immunology (orlando, Fla.), 2020
Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome.
Nogueira M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes.
Piscianz E et al.
Inflammation Research : Official Journal of the European Histamine Research Society ... [et Al.], 2019
Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.
Nasomyont N et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Neutrophilic dermatosis associated with an NFKB2 mutation.
Okamura K et al.
Clinical and Experimental Dermatology, 2019
Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.
Slade CA et al.
Journal of Clinical Immunology, 2019
Psoriasiform dermatitis associated with common variable immunodeficiency 10 due to an Arg853* mutation in the NFKB2 gene.
Nagai M et al.
The Journal of Dermatology, 2019
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
Karanovic D et al.
Frontiers in Immunology, 2019
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Klemann C et al.
Frontiers in Immunology, 2019
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.
Aird A et al.
Frontiers in Pediatrics, 2019
[De novo NFκB2 gene mutation associated common variable immunodeficiency].
Luo MZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.
Ramakrishnan KA et al.
The Journal of Allergy and Clinical Immunology, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.
Kuehn HS et al.
Blood, 2017
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
Rae W et al.
Clinical & Translational Immunology, 2017
NFKB2 mutation in common variable immunodeficiency and isolated adrenocorticotropic hormone deficiency: A case report and review of literature.
Shi C et al.
Medicine, 2016
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
Brue T et al.
Bmc Medical Genetics, 2014
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Singleton MV et al.
American Journal of Human Genetics, 2014
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.
Chen K et al.
American Journal of Human Genetics, 2013