Ontology highlight
ABSTRACT:
SUBMITTER: Zilberman-Rudenko J
PROVIDER: S-EPMC4760784 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Zilberman-Rudenko Jevgenia J Shawver Linda Monaco LM Wessel Alex W AW Luo Yongquan Y Pelletier Martin M Tsai Wanxia Li WL Lee Younglang Y Vonortas Spiridon S Cheng Laurence L Ashwell Jonathan D JD Orange Jordan S JS Siegel Richard M RM Hanson Eric P EP
Proceedings of the National Academy of Sciences of the United States of America 20160122 6
Receptor-induced NF-κB activation is controlled by NEMO, the NF-κB essential modulator. Hypomorphic NEMO mutations result in X-linked ectodermal dysplasia with anhidrosis and immunodeficiency, also referred to as NEMO syndrome. Here we describe a distinct group of patients with NEMO C-terminal deletion (ΔCT-NEMO) mutations. Individuals harboring these mutations develop inflammatory skin and intestinal disease in addition to ectodermal dysplasia with anhidrosis and immunodeficiency. Both primary ...[more]