Author/Authors :
Venkatramani, Rajkumar Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA , Steffin, David Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA , Bhar, Saleh Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA , Fishman, DouglasS. Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA , Rider, NicholasL. Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA , Naik-Mathuria, Bindi Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA , Martinez, Caridad Texas Children’s Hospital -Baylor College of Medicine - Houston - TX 77030, USA
Abstract :
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a lossof function mutation in theFOXP3gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy,type 1 diabetes mellitus, and eczema. While aberrantFOXP3expression has been associated with several types of cancer, little isknown regarding the risk of cancer in patients with IPEX harboring the characteristicFOXP3mutation. Here, we present a uniquecase of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.
Keywords :
Gastric Adenocarcinoma , Setting of IPEX Syndrome , Immune dysregulation , polyendocrinopathy , enteropathy , X-linked (IPEX)
