Manfred Anim Georgios Sogkas Gunnar Schmidt Natalia Dubrowinskaja Torsten Witte Reinhold Ernst Schmidt Faranaz Atschekzei
10.3389/fimmu.2021.767188
Front Immunol
2021 Dec 24;12:767188.
nfkb1 nfkb1 (p50) common variable immune deficiency (cvid) hypogammaglobulinemia primary antibody deficiency (pad)
CC BY
https://pubmed.ncbi.nlm.nih.gov/35003082/
Common Variable Immunodeficiency / genetics Genetic Predisposition to Disease / genetics Meningococcal Infections / genetics Mutation, Missense NF-kappa B p50 Subunit / genetics
Common Variable Immunodeficiency / genetics Genetic Predisposition to Disease / genetics Meningococcal Infections / genetics Mutation, Missense NF-kappa B p50 Subunit / genetics Case Reports Research Support, Non-U.S. Gov't Active Transport, Cell Nucleus / genetics Cell Nucleus / metabolism Cells, Cultured Common Variable Immunodeficiency / metabolism Family Health Female HEK293 Cells Humans Male Meningococcal Infections / metabolism Middle Aged NF-kappa B p50 Subunit / metabolism Pedigree Sequence Analysis, DNA / methods Young Adult NF-kappa B p50 Subunit NFKB1 protein, human
PMC8738076
35003082
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1
2021