IPEX as a Result of Mutations in FOXP3

2007/01/01 by Hans J. J. van der Vliet, Edward E. S. Nieuwenhuis · 1 citation
Immunology and Microbiology · Biochemistry, Genetics and Molecular Biology · #Immune Cell Function and Interaction #T-cell and B-cell Immunology #Diabetes and associated disorders

paper · pdf · doi:10.1155/2007/89017

openalex publication_date 2007/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/15

Abstract

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by mutations in the FOXP3 gene that result in the defective development of CD4+CD25+ regulatory T cells which constitute an important T cell subset involved in immune homeostasis and protection against autoimmunity. Their deficiency is the hallmark of IPEX and leads to severe autoimmune phenomena including autoimmune enteropathy, dermatitis, thyroiditis, and type 1 diabetes, frequently resulting in death within the first 2 years of life. Apart from its clinical implications, IPEX illustrates the importance of immunoregulatory cells such as CD4+CD25+ regulatory T cells.

Citations

• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
• X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
• Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
• Scurfin (FOXP3) Acts as a Repressor of Transcription and Regulates T Cell Activation
• Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome

Cited by

• FOXP3 [wikipedia]