Ontology highlight
ABSTRACT:
SUBMITTER: Badran YR
PROVIDER: S-EPMC5502421 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Badran Yousef R YR Dedeoglu Fatma F Leyva Castillo Juan Manuel JM Bainter Wayne W Ohsumi Toshiro K TK Bousvaros Athos A Goldsmith Jeffrey D JD Geha Raif S RS Chou Janet J
The Journal of experimental medicine 20170609 7
The treatment of chronic mucocutaneous ulceration is challenging, and only some patients respond selectively to inhibitors of tumor necrosis factor-α (TNF). TNF activates opposing pathways leading to caspase-8-mediated apoptosis as well as nuclear factor κB (NF-κB)-dependent cell survival. We investigated the etiology of autosomal-dominant, mucocutaneous ulceration in a family whose proband was dependent on anti-TNF therapy for sustained remission. A heterozygous mutation in <i>RELA</i>, encodin ...[more]