Associated Papers
Compound heterozygous NFKB1 missense variants in cis associated with immunodeficiency.
Fliegauf M et al.
Clinical Immunology (orlando, Fla.), 2026
Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.
Kang Z et al.
Immunologic Research, 2025
A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy.
Eddens T et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2024
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Nurmi K et al.
Cell Reports. Medicine, 2024
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Nakatani N et al.
Human Genome Variation, 2024
What can inherited immunodeficiencies reveal about pyoderma gangrenosum?
Oprea Y et al.
Experimental Dermatology, 2024
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
Santaniemi W et al.
Journal of Clinical Immunology, 2023
Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022?
Vergneault H et al.
Immunology, 2023
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J et al.
The Journal of Experimental Medicine, 2021
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M et al.
The Journal of Allergy and Clinical Immunology, 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
Advances and highlights in primary immunodeficiencies in 2017.
Chinen J et al.
The Journal of Allergy and Clinical Immunology, 2018
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Kaustio M et al.
The Journal of Allergy and Clinical Immunology, 2017
NFKB1 regulates human NK cell maturation and effector functions.
Lougaris V et al.
Clinical Immunology (orlando, Fla.), 2017
Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.
Hoeger B et al.
Frontiers in Immunology, 2017
Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans.
Schipp C et al.
Haematologica, 2016