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Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes.

Rubio-Cabezas O, Minton JA, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, Ellard S, Hattersley AT.

Diabetes Care. 2009 Jan;32(1):111-6. Epub 2008 Oct 17.PMID: 18931102 [PubMed - in process]Related articlesFree article

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity.

Gambineri E, Perroni L, Passerini L, Bianchi L, Doglioni C, Meschi F, Bonfanti R, Sznajer Y, Tommasini A, Lawitschka A, Junker A, Dunstheimer D, Heidemann PH, Cazzola G, Cipolli M, Friedrich W, Janic D, Azzi N, Richmond E, Vignola S, Barabino A, Chiumello G, Azzari C, Roncarolo MG, Bacchetta R.

J Allergy Clin Immunol. 2008 Dec;122(6):1105-1112.e1. Epub 2008 Oct 25.PMID: 18951619 [PubMed - indexed for MEDLINE]Related articles

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.

Clin Gastroenterol Hepatol. 2006 May;4(5):653-9.PMID: 16630773 [PubMed - indexed for MEDLINE]Related articles

Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Halabi-Tawil M, Ruemmele FM, Fraitag S, Rieux-Laucat F, Neven B, Brousse N, De Prost Y, Fischer A, Goulet O, Bodemer C.

Br J Dermatol. 2009 Mar;160(3):645-51. Epub 2008 Sep 15.PMID: 18795917 [PubMed - indexed for MEDLINE]Related 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.

Nat Genet. 2001 Jan;27(1):20-1.PMID: 11137993 [PubMed - indexed for MEDLINE]Related articles

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis.

Gambineri E, Torgerson TR, Ochs HD.

Curr Opin Rheumatol. 2003 Jul;15(4):430-5. Review.PMID: 12819471 [PubMed - indexed for MEDLINE]Related articles

Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register.

Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S.

Pediatr Diabetes. 2009 Jun 3. [Epub ahead of print]PMID: 19496964 [PubMed - as supplied by publisher]Related articles

Molecular basis of neonatal diabetes in Japanese patients.

Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K.

J Clin Endocrinol Metab. 2007 Oct;92(10):3979-85. Epub 2007 Jul 17. Erratum in: J Clin Endocrinol Metab. 2008 Jan;93(1):153. PMID: 17635943 [PubMed - indexed for MEDLINE]Related articlesFree article

Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency.

Zuber J, Viguier M, Lemaitre F, Senée V, Patey N, Elain G, Geissmann F, Fakhouri F, Ferradini L, Julier C, Bandeira A.

Gastroenterology. 2007 May;132(5):1694-704. Epub 2007 Feb 21.PMID: 17484867 [PubMed - indexed for MEDLINE]Related articles

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.

Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JW.

J Allergy Clin Immunol. 2007 Feb;119(2):482-7. Epub 2006 Dec 27.PMID: 17196245 [PubMed - indexed for MEDLINE]Related articles

Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.

Zhan H, Sinclair J, Adams S, Cale CM, Murch S, Perroni L, Davies G, Amrolia P, Qasim W.

Pediatrics. 2008 Apr;121(4):e998-1002. Epub 2008 Mar 3.PMID: 18316354 [PubMed - indexed for MEDLINE]Related articlesFree article

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.PMID: 17490422 [PubMed - indexed for MEDLINE]Related articles

IPEX and FOXP3: clinical and research perspectives.

Wildin RS, Freitas A.

J Autoimmun. 2005;25 Suppl:56-62. Epub 2005 Oct 21. Review.PMID: 16243487 [PubMed - indexed for MEDLINE]Related articles

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.

Torgerson TR, Linane A, Moes N, Anover S, Mateo V, Rieux-Laucat F, Hermine O, Vijay S, Gambineri E, Cerf-Bensussan N, Fischer A, Ochs HD, Goulet O, Ruemmele FM.

Gastroenterology. 2007 May;132(5):1705-17. Epub 2007 Feb 23.PMID: 17484868 [PubMed - indexed for MEDLINE]Related articles

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SH.

J Clin Endocrinol Metab. 2003 Dec;88(12):6034-9.PMID: 14671208 [PubMed - indexed for MEDLINE]Related articlesFree article

From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome.

Blanco Quirós A, Arranz Sanz E, Bernardo Ordiz D, Garrote Adrados JA.

Allergol Immunopathol (Madr). 2009 Jul-Aug;37(4):208-15. Epub 2009 Aug 26.PMID: 19912978 [PubMed - in process]Related articlesFree article

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

Bacchetta R, Passerini L, Gambineri E, Dai M, Allan SE, Perroni L, Dagna-Bricarelli F, Sartirana C, Matthes-Martin S, Lawitschka A, Azzari C, Ziegler SF, Levings MK, Roncarolo MG.

J Clin Invest. 2006 Jun;116(6):1713-22.PMID: 16741580 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.

Diabetologia. 2006 Jun;49(6):1190-7. Epub 2006 Apr 12.PMID: 16609879 [PubMed - indexed for MEDLINE]Related articles

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX syndrome.

Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan RL, Shigeoka AO, Ochs HD, Chance PF.

Immunogenetics. 2001 Aug;53(6):435-9.PMID: 11685453 [PubMed - indexed for MEDLINE]Related articles

IPEX as a result of mutations in FOXP3.

van der Vliet HJ, Nieuwenhuis EE.

Clin Dev Immunol. 2007;2007:89017. Review.PMID: 18317533 [PubMed - indexed for MEDLINE]Related articlesFree article