A potential screening tool for IPEX syndrome.
Publication/Presentation Date
1-1-2007
Abstract
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.
Volume
10
Issue
2
First Page
98
Last Page
105
ISSN
1093-5266
Published In/Presented At
Heltzer, M. L., Choi, J. K., Ochs, H. D., Sullivan, K. E., Torgerson, T. R., & Ernst, L. M. (2007). A potential screening tool for IPEX syndrome. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 10(2), 98–105. https://doi.org/10.2350/06-07-0130.1
Disciplines
Medicine and Health Sciences
PubMedID
17378693
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article