Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.
Fathi N et al.
Journal of Clinical Immunology, 2024
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Gippert S et al.
Endocrine, 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
Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.
Wirasinha RC et al.
The Journal of Experimental Medicine, 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
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
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
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
Coopmans EC et al.
Frontiers in Immunology, 2019
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
A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.
Lal RA et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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