Associated Papers
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
Nakatani N et al.
Human Genome Variation, 2024
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.
Li J et al.
The Journal of Experimental Medicine, 2021
34473196 (PubMed )
Supplement: JEM_20210566_TableS1.xlsx › Table_S1
Perspective: Application of the American College of Medical Genetics Variant Interpretation Criteria to Common Variable Immunodeficiency Disorders.
Ameratunga R et al.
Clinical Reviews in Allergy & Immunology, 2021
Keeping it in the family: the case for considering late-onset combined immunodeficiency a subset of common variable immunodeficiency disorders.
Ameratunga R et al.
Expert Review of Clinical Immunology, 2018
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
29867916 (PubMed )
Supplement: data_sheet_1.PDF
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.
Fliegauf M et al.
American Journal of Human Genetics, 2015
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