X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy - PubMed (original) (raw)

F Ramsdell, J Peake, F Faravelli, J L Casanova, N Buist, E Levy-Lahad, M Mazzella, O Goulet, L Perroni, F D Bricarelli, G Byrne, M McEuen, S Proll, M Appleby, M E Brunkow

Affiliations

• PMID: 11137992
• DOI: 10.1038/83707

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

R S Wildin et al. Nat Genet. 2001 Jan.

Abstract

To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.

PubMed Disclaimer

Similar articles

• The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
  Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD. Bennett CL, et al. Nat Genet. 2001 Jan;27(1):20-1. doi: 10.1038/83713. Nat Genet. 2001. PMID: 11137993
• IPEX is a unique X-linked syndrome characterized by immune dysfunction, polyendocrinopathy, enteropathy, and a variety of autoimmune phenomena.
  Bennett CL, Ochs HD. Bennett CL, et al. Curr Opin Pediatr. 2001 Dec;13(6):533-8. doi: 10.1097/00008480-200112000-00007. Curr Opin Pediatr. 2001. PMID: 11753102 Review.
• Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX).
  Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K. Kobayashi I, et al. J Med Genet. 2001 Dec;38(12):874-6. doi: 10.1136/jmg.38.12.874. J Med Genet. 2001. PMID: 11768393 Free PMC article. No abstract available.
• Mechanistic associations of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome.
  De Benedetti F, Insalaco A, Diamanti A, Cortis E, Muratori F, Lamioni A, Carsetti R, Cusano R, De Vito R, Perroni L, Gambarara M, Castro M, Bottazzo GF, Ugazio AG. De Benedetti F, et al. Clin Gastroenterol Hepatol. 2006 May;4(5):653-9. doi: 10.1016/j.cgh.2005.12.014. Clin Gastroenterol Hepatol. 2006. PMID: 16630773

Cited by

• A Novel Subset of Regulatory T Cells Induced by B Cells Alleviate the Severity of Immunological Diseases.
  Chu KH, Chiang BL. Chu KH, et al. Clin Rev Allergy Immunol. 2024 Oct 28. doi: 10.1007/s12016-024-09009-y. Online ahead of print. Clin Rev Allergy Immunol. 2024. PMID: 39465485 Review.
• Cancer-associated SF3B1-K700E mutation controls immune responses by regulating Treg function via aberrant Anapc13 splicing.
  Shi Y, Zhang W, Jia Q, Zhong X, Iyer P, Wu H, Yuan YC, Zhao Y, Zhang L, Wang L, Jia Z, Kuo YH, Sun Z. Shi Y, et al. Sci Adv. 2024 Sep 20;10(38):eado4274. doi: 10.1126/sciadv.ado4274. Epub 2024 Sep 20. Sci Adv. 2024. PMID: 39303038 Free PMC article.
• Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.
  Havrylov S, Chrystal P, van Baarle S, French CR, MacDonald IM, Avasarala J, Rogers RC, Berry FB, Kume T, Waskiewicz AJ, Lehmann OJ. Havrylov S, et al. Sci Rep. 2024 Aug 31;14(1):20278. doi: 10.1038/s41598-024-71159-y. Sci Rep. 2024. PMID: 39217245 Free PMC article.
• Peripheral-derived regulatory T cells contribute to tumor-mediated immune suppression in a nonredundant manner.
  Hossain MM, King P, Hackett J, Gerard HC, Niwinski R, Wu L, Van Kaer L, Dyson G, Gibson H, Borowsky AD, Sebzda E. Hossain MM, et al. Proc Natl Acad Sci U S A. 2024 Sep 3;121(36):e2404916121. doi: 10.1073/pnas.2404916121. Epub 2024 Aug 29. Proc Natl Acad Sci U S A. 2024. PMID: 39207730
• T-regulatory cells require Sin3a for stable expression of Foxp3.
  Christensen LM, Akimova T, Wang L, Han R, Samanta A, Di Giorgio E, Hancock WW. Christensen LM, et al. Front Immunol. 2024 Aug 2;15:1444937. doi: 10.3389/fimmu.2024.1444937. eCollection 2024. Front Immunol. 2024. PMID: 39156895 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Other Literature Sources

  • The Lens - Patent Citations Database

• Medical

  • MedlinePlus Health Information

• Molecular Biology Databases

  • GlyGen glycoinformatics resource
  • Mouse Genome Informatics (MGI)