Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome

• Main Authors: Alejandra Aird (Author), Macarena Lagos (Author), Alexander Vargas-Hernández (Author), Jennifer E. Posey (Author), Zeynep Coban-Akdemir (Author), Shalini Jhangiani (Author), Emily M. Mace (Author), Anaid Reyes (Author), Alejandra King (Author), Felipe Cavagnaro (Author), Lisa R. Forbes (Author), Ivan K. Chinn (Author), James R. Lupski (Author), Jordan S. Orange (Author), Maria Cecilia Poli (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Nuclear factor kappa-B subunit 2 (NF-κB2/p100/p52), encoded by NFKB2 (MIM: 164012) belongs to the NF-κB family of transcription factors that play a critical role in inflammation, immunity, cell proliferation, differentiation and survival. Heterozygous C-terminal mutations in NFKB2 have been associat...