Document Detail

A potential screening tool for IPEX syndrome.
MedLine Citation:
PMID:  17378693     Owner:  NLM     Status:  MEDLINE    
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.
Meredith Lee Heltzer; John K Choi; Hans D Ochs; Kathleen E Sullivan; Troy R Torgerson; Linda M Ernst
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society     Volume:  10     ISSN:  1093-5266     ISO Abbreviation:  Pediatr. Dev. Pathol.     Publication Date:    2007 Mar-Apr
Date Detail:
Created Date:  2007-03-23     Completed Date:  2007-05-04     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9809673     Medline TA:  Pediatr Dev Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  98-105     Citation Subset:  IM    
Division of Allergy and Immunology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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MeSH Terms
Case-Control Studies
Child, Preschool
Fatal Outcome
Follow-Up Studies
Forkhead Transcription Factors* / genetics,  metabolism
Frameshift Mutation
Genetic Diseases, X-Linked / diagnosis*,  genetics,  immunology,  pathology,  surgery,  therapy
Genetic Testing*
Immunosuppressive Agents / therapeutic use
Intestinal Mucosa / metabolism,  pathology
Intestine, Large / surgery
Mucous Membrane / metabolism,  pathology
Mutation, Missense
Polyendocrinopathies, Autoimmune / diagnosis*,  genetics,  immunology,  pathology,  surgery,  therapy
Protein-Losing Enteropathies / diagnosis*,  genetics,  immunology,  pathology,  surgery,  therapy
Retrospective Studies
Sirolimus / therapeutic use
T-Lymphocytes / metabolism
Time Factors
Treatment Outcome
Reg. No./Substance:
0/FOXP3 protein, human; 0/Forkhead Transcription Factors; 0/Immunosuppressive Agents; 53123-88-9/Sirolimus

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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