Associated Papers
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Lee JK et al.
Journal of Clinical Immunology, 2025
Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.
Fathi N et al.
Journal of Clinical Immunology, 2024
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
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
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
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
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2.
Klemann C et al.
Frontiers in Immunology, 2019
Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.
Al-Herz W et al.
Frontiers in Immunology, 2018
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