A potential screening tool for IPEX syndrome

Meredith Lee Heltzer*, John K. Choi, Hans D. Ochs, Kathleen E. Sullivan, Troy R. Torgerson, Linda M. Ernst

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


IPEX syndrome is a rare, inherited condition characterized by immune dysfunction, polyendocrinopathy, enteropathy, and X-linked recessive inheritance. Patients typically present in infancy with severe diarrhea and failure to thrive. Most children die by 1 year of age without therapy. The diagnosis is established by genetic analysis, which often takes several weeks to complete and can sometimes delay crucial immunosuppressive treatment. We attempted to develop a screening tool that allows rapid identification of patients with IPEX syndrome using immunocytochemical staining of FOXP3+ cells in bowel biopsies. We found that 2 patients with classic IPEX syndrome due to protein-truncating mutations in FOXP3 had markedly decreased staining of FOXP3+ T cells in the lamina propria and lymphoid aggregates. One patient with a mild, late-onset presentation and a missense mutation in FOXP3 had intact staining of FOXP3+ cells. This screening test provides a valuable tool for diagnosing IPEX syndrome in extremely ill patients who may not tolerate a delay in therapeutic intervention.

Original languageEnglish (US)
Pages (from-to)98-105
Number of pages8
JournalPediatric and Developmental Pathology
Issue number2
StatePublished - Mar 2007


  • Enteropathy
  • FOXP3
  • IPEX syndrome
  • Immune dysfunction
  • Polyendrocrinopathy
  • Regulatory T cells

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


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