Gastric Adenocarcinoma in the Setting of IPEX Syndrome

David Steffin, Saleh Bhar, Douglas S. Fishman, Nicholas L. Rider, Bindi Naik-Mathuria, Caridad Martinez, Rajkumar Venkatramani

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.

Original languageEnglish (US)
Article number9967198
JournalCase Reports in Immunology
StatePublished - 2021
Externally publishedYes

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology


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