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

2000/02/01 by Craig L. Bennett, Ritsuko Yoshioka, Hidenori Kiyosawa +4 · 6 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Adrenal Hormones and Disorders #Pancreatic function and diabetes #Receptor Mechanisms and Signaling

paper · pdf · doi:10.1086/302761

crossref issued 2000/02/01 · crossref published 2000/02/01 · crossref published-print 2000/02/01 · openalex publication_date 2000/02/01 · crossref created 2002/07/26 · crossref deposited 2020/03/04 · openalex created_date 2025/10/10 · crossref indexed 2026/03/12 · openalex updated_date 2026/07/29

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• 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
• Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)
• Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome
• JM2, encoding a fork head–related protein, is mutated in X-linked autoimmunity–allergic disregulation syndrome
• FOXP3 [wikipedia]