Associated Papers
Very-early-onset autoimmune hypothyroidism: a report of two cases with STAT3 gain-of-function variant.
Ravi R et al.
European Thyroid Journal, 2025
41263296 (PubMed )
Supplement: supplementary_materials.pdf
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
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1.
Anim M et al.
Frontiers in Immunology, 2021
Select a paper to view details