Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

2001/12/01 by Ichiro Kobayashi, Reza Shiari, Masafumi Yamada +9 · 2 citations
Medicine · Biochemistry, Genetics and Molecular Biology · Immunology and Microbiology · #Adrenal Hormones and Disorders #Diabetes and associated disorders #T-cell and B-cell Immunology

paper · doi:10.1136/jmg.38.12.874

openalex publication_date 2001/12/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/30

Abstract

A combined technique of extracapsular cataract extraction and silicone oil injection is described. The anterior capsule is preserved to prevent movement of the silicone oil from the vitreous cavity to the anterior chamber. An anterior chamber tap ensures that the vitreous cavity is completely filled with silicone oil, while a peripheral iridectomy prevents postoperative pupillary block glaucoma.

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
• X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

Cited by

• Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome
• FOXP3 [wikipedia]