• We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. Aug 2002; 39(8): 537–545.
PMCID: PMC1735203

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

Full Text

The Full Text of this article is available as a PDF (156K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Godfrey VL, Wilkinson JE, Russell LB. X-linked lymphoreticular disease in the scurfy (sf) mutant mouse. Am J Pathol. 1991 Jun;138(6):1379–1387. [PMC free article] [PubMed]
  • Lyon MF, Peters J, Glenister PH, Ball S, Wright E. The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A. 1990 Apr;87(7):2433–2437. [PMC free article] [PubMed]
  • Godfrey VL, Rouse BT, Wilkinson JE. Transplantation of T cell-mediated, lymphoreticular disease from the scurfy (sf) mouse. Am J Pathol. 1994 Aug;145(2):281–286. [PMC free article] [PubMed]
  • Blair PJ, Bultman SJ, Haas JC, Rouse BT, Wilkinson JE, Godfrey VL. CD4+CD8- T cells are the effector cells in disease pathogenesis in the scurfy (sf) mouse. J Immunol. 1994 Oct 15;153(8):3764–3774. [PubMed]
  • Clark LB, Appleby MW, Brunkow ME, Wilkinson JE, Ziegler SF, Ramsdell F. Cellular and molecular characterization of the scurfy mouse mutant. J Immunol. 1999 Mar 1;162(5):2546–2554. [PubMed]
  • Zahorsky-Reeves JL, Wilkinson JE. The murine mutation scurfy (sf) results in an antigen-dependent lymphoproliferative disease with altered T cell sensitivity. Eur J Immunol. 2001 Jan;31(1):196–204. [PubMed]
  • Kanangat S, Blair P, Reddy R, Daheshia M, Godfrey V, Rouse BT, Wilkinson E, Deheshia M. Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes. Eur J Immunol. 1996 Jan;26(1):161–165. [PubMed]
  • Derry JM, Wiedemann P, Blair P, Wang Y, Kerns JA, Lemahieu V, Godfrey VL, Wilkinson JE, Francke U. The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome. Genomics. 1995 Sep 20;29(2):471–477. [PubMed]
  • Brunkow ME, Jeffery EW, Hjerrild KA, Paeper B, Clark LB, Yasayko SA, Wilkinson JE, Galas D, Ziegler SF, Ramsdell F. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet. 2001 Jan;27(1):68–73. [PubMed]
  • Schubert LA, Jeffery E, Zhang Y, Ramsdell F, Ziegler SF. Scurfin (FOXP3) acts as a repressor of transcription and regulates T cell activation. J Biol Chem. 2001 Oct 5;276(40):37672–37679. [PubMed]
  • Bennett CL, Yoshioka R, Kiyosawa H, Barker DF, Fain PR, Shigeoka AO, Chance PF. X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. Am J Hum Genet. 2000 Feb;66(2):461–468. [PMC free article] [PubMed]
  • Ferguson PJ, Blanton SH, Saulsbury FT, McDuffie MJ, Lemahieu V, Gastier JM, Francke U, Borowitz SM, Sutphen JL, Kelly TE. Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome. Am J Med Genet. 2000 Feb 28;90(5):390–397. [PubMed]
  • Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, Kelly TE, Saulsbury FT, Chance PF, Ochs HD. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001 Jan;27(1):20–21. [PubMed]
  • Wildin RS, Ramsdell F, Peake J, Faravelli F, Casanova JL, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat Genet. 2001 Jan;27(1):18–20. [PubMed]
  • Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi A, Ishikawa N, Ariga T, Sakiyama Y, et al. Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). J Med Genet. 2001 Dec;38(12):874–876. [PMC free article] [PubMed]
  • Powell BR, Buist NR, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr. 1982 May;100(5):731–737. [PubMed]
  • Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF. A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome. Immunogenetics. 2001 Aug;53(6):435–439. [PubMed]
  • Goulet OJ, Brousse N, Canioni D, Walker-Smith JA, Schmitz J, Phillips AD. Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases. J Pediatr Gastroenterol Nutr. 1998 Feb;26(2):151–161. [PubMed]
  • Mirakian R, Richardson A, Milla PJ, Walker-Smith JA, Unsworth J, Savage MO, Bottazzo GF. Protracted diarrhoea of infancy: evidence in support of an autoimmune variant. Br Med J (Clin Res Ed) 1986 Nov 1;293(6555):1132–1136. [PMC free article] [PubMed]
  • Levy-Lahad E, Wildin RS. Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome. J Pediatr. 2001 Apr;138(4):577–580. [PubMed]
  • Dodge JA, Laurence KM. Congenital absence of islets of Langerhans. Arch Dis Child. 1977 May;52(5):411–413. [PMC free article] [PubMed]
  • Di Rocco M, Marta R. X linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed. 1996 Sep;75(2):F144–F144. [PMC free article] [PubMed]
  • Hattevig G, Kjellman B, Fällström SP. Congenital permanent diabetes mellitus and celiac disease. J Pediatr. 1982 Dec;101(6):955–957. [PubMed]
  • Zeller J, Voyer M, Bougnères PF. Hyperglycémies et diabètes néonatals. Arch Pediatr. 1994 Jun;1(6):561–567. [PubMed]
  • Ellis D, Fisher SE, Smith WI, Jr, Jaffe R. Familial occurrence of renal and intestinal disease associated with tissue autoantibodies. Am J Dis Child. 1982 Apr;136(4):323–326. [PubMed]
  • Kobayashi I, Imamura K, Yamada M, Okano M, Yara A, Ikema S, Ishikawa N. A 75-kD autoantigen recognized by sera from patients with X-linked autoimmune enteropathy associated with nephropathy. Clin Exp Immunol. 1998 Mar;111(3):527–531. [PMC free article] [PubMed]
  • Peake JE, McCrossin RB, Byrne G, Shepherd R. X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea. Arch Dis Child Fetal Neonatal Ed. 1996 May;74(3):F195–F199. [PMC free article] [PubMed]
  • Roberts J, Searle J. Neonatal diabetes mellitus associated with severe diarrhea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans. Pediatr Pathol Lab Med. 1995 May-Jun;15(3):477–483. [PubMed]
  • Meyer B, Nézelof C, Lemoine, Charlas J, Caille B, Vialatte J. A propos de deux cas de diabète néonatal. Ann Pediatr (Paris) 1970 Aug-Sep;17(8):569–573. [PubMed]
  • Jonas MM, Bell MD, Eidson MS, Koutouby R, Hensley GT. Congenital diabetes mellitus and fatal secretory diarrhea in two infants. J Pediatr Gastroenterol Nutr. 1991 Nov;13(4):415–425. [PubMed]
  • Satake N, Nakanishi M, Okano M, Tomizawa K, Ishizaka A, Kojima K, Onodera M, Ariga T, Satake A, Sakiyama Y, et al. A Japanese family of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy. Eur J Pediatr. 1993 Apr;152(4):313–315. [PubMed]
  • Kobayashi I, Nakanishi M, Okano M, Sakiyama Y, Matsumoto S. Combination therapy with tacrolimus and betamethasone for a patient with X-linked auto-immune enteropathy. Eur J Pediatr. 1995 Jul;154(7):594–595. [PubMed]
  • Walker-Smith JA, Unsworth DJ, Hutchins P, Phillips AD, Holborow EJ. Autoantibodies against gut epithelium in child with small-intestinal enteropathy. Lancet. 1982 Mar 6;1(8271):566–567. [PubMed]
  • Cilio CM, Bosco S, Moretti C, Farilla L, Savignoni F, Colarizi P, Multari G, Di Mario U, Bucci G, Dotta F, et al. Congenital autoimmune diabetes mellitus. N Engl J Med. 2000 May 18;342(20):1529–1531. [PubMed]
  • Finel E, Giroux JD, Metz C, Robert JJ, Robert O, Sadoun E, Alix D, de Parscau L. Diabète néonatal vrai associé à une maladie auto-immune. Arch Pediatr. 1996 Aug;3(8):782–784. [PubMed]
  • Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D, Dupuis-Girod S, Cerf-Bensussan N, Cavazzana-Calvo M, Brousse N, et al. Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med. 2001 Jun 7;344(23):1758–1762. [PubMed]
  • Seidman EG, Lacaille F, Russo P, Galeano N, Murphy G, Roy CC. Successful treatment of autoimmune enteropathy with cyclosporine. J Pediatr. 1990 Dec;117(6):929–932. [PubMed]
  • Savage MO, Mirakian R, Harries JT, Bottazzo GF. Could protracted diarrhoea of infancy have an autoimmune pathogenesis? Lancet. 1982 Apr 24;1(8278):966–967. [PubMed]
  • Kobayashi I, Imamura K, Kubota M, Ishikawa S, Yamada M, Tonoki H, Okano M, Storch WB, Moriuchi T, Sakiyama Y, et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen. Gastroenterology. 1999 Oct;117(4):823–830. [PubMed]
  • Kobayashi I, Kawamura N, Okano M. A long-term survivor with the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. N Engl J Med. 2001 Sep 27;345(13):999–1000. [PubMed]
  • Savilahti E, Simell O, Koskimies S, Rilva A, Akerblom HK. Celiac disease in insulin-dependent diabetes mellitus. J Pediatr. 1986 May;108(5 Pt 1):690–693. [PubMed]
  • Patel DD. Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse. J Clin Invest. 2001 Jan;107(2):155–157. [PMC free article] [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • Cited in Books
    Cited in Books
    PubMed Central articles cited in books
  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...