Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- 3 February 2009
- journal article
- case report
- Published by Springer Science and Business Media LLC in Pediatric Nephrology
- Vol. 24 (6), 1181-1186
- https://doi.org/10.1007/s00467-009-1119-8
Abstract
Several studies have suggested that T cell-producing permeability factors might lead to proteinuria in minimal change nephrotic syndrome (MCNS). However, it is still unclear whether T-cell abnormalities cause MCNS. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder of the immune regulation system, which leads to severe autoimmune phenomena including autoimmune enteropathy, atopic dermatitis with high levels of serum immunoglobulin E (IgE), type 1 diabetes mellitus (T1DM), and severe infection such as sepsis, which frequently result in death within the first 2 years of life. This disease is caused by mutations in the FOXP3 gene that result in the defective development of regulatory T (Treg) cells. This report describes a 5-year-old boy with IPEX syndrome with a 3 bp deletion in the FOXP3 gene (c.748–750delAAG, p.250K.del) and a paucity of CD4+ CD25+ FOXP3+ T cells. The boy’s condition was complicated by MCNS in addition to many IPEX-related manifestations, such as atopic dermatitis, T1DM, enteropathy, sepsis and hemolytic anemia. This is the first report of IPEX syndrome complicated by MCNS, and our findings imply that Treg cell dysfunction may be crucial for the development of MCNS.Keywords
This publication has 31 references indexed in Scilit:
- Intron‐1 rs3761548 is related to the defective transcription of Foxp3 in psoriasis through abrogating E47/c‐Myb bindingJournal of Cellular and Molecular Medicine, 2010
- Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal DiabetesDiabetes Care, 2009
- The Glomerular Transcriptome and a Predicted Protein–Protein Interaction NetworkJournal of the American Society of Nephrology, 2008
- IPEX as a Result of Mutations in FOXP3Clinical and Developmental Immunology, 2007
- Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancyPediatric Nephrology, 2007
- Defective regulatory and effector T cell functions in patients with FOXP3 mutationsJCI Insight, 2006
- Analysis of the Foxp3/Scurfin Gene in Crohn's DiseaseAnnals of the New York Academy of Sciences, 2005
- Combined T- and B-cell activation in childhood steroid-sensitive nephrotic syndromeClinical Nephrology, 2003
- Management of steroid-sensitive nephrotic syndrome in children with type 1 diabetesPediatric Nephrology, 2002
- NEPHROTIC SYNDROME ASSOCIATED WITH INHALED ALLERGENSThe Lancet, 1970