Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.

@article{Kuehn2017NovelNG,
  title={Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.},
  author={Hye Sun Kuehn and Julie E. Niemela and Karthik Sreedhara and Jennifer L. Stoddard and Jennifer Hall Grossman and Christian A. Wysocki and M Teresa de la Morena and Mary Garofalo and Jingga Inlora and Michael P. Snyder and David B Lewis and Constantine A Stratakis and Thomas A. Fleisher and Sergio Damian Rosenzweig},
  journal={Blood},
  year={2017},
  volume={130 13},
  pages={
          1553-1564
        }
}
NF-κB signaling through its NFKB1-dependent canonical and NFKB2-dependent noncanonical pathways plays distinctive roles in a diverse range of immune processes. Recently, mutations in these 2 genes have been associated with common variable immunodeficiency (CVID). While studying patients with genetically uncharacterized primary immunodeficiencies, we detected 2 novel nonsense gain-of-function (GOF) NFKB2 mutations (E418X and R635X) in 3 patients from 2 families, and a novel missense change… CONTINUE READING
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