Associated Papers
Compound heterozygous NFKB1 missense variants in cis associated with immunodeficiency.
Fliegauf M et al.
Clinical Immunology (orlando, Fla.), 2026
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Nakatani N et al.
Human Genome Variation, 2024
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Fliegauf M et al.
Frontiers in Immunology, 2022
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
Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy.
Rösler B et al.
Clinical and Experimental Immunology, 2021
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease.
Shiraki M et al.
Children (basel, Switzerland), 2021
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.
Fliegauf M et al.
Frontiers in Immunology, 2021
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1.
Anim M et al.
Frontiers in Immunology, 2021
Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.
Mitchell KA et al.
Nature Communications, 2019
Advances and highlights in primary immunodeficiencies in 2017.
Chinen J et al.
The Journal of Allergy and Clinical Immunology, 2018
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.
Jain A et al.
Rheumatology International, 2018
Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.
Kaustio M et al.
The Journal of Allergy and Clinical Immunology, 2017
Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.
Hoeger B et al.
Frontiers in Immunology, 2017