Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

Gastroenterology

Volumn 139, Issue 3, 2010, Pages 770-778

  Moes, Nicolette ^a,b   Rieuxlaucat, Frédéric ^a,b,d   Begue, Bernadette ^b   Verdier, Julien ^b   Neven, Bénédicte ^b,c   Patey, Natacha ^b   Torgerson, Troy T ^d   Picard, Capucine ^a,b,c,e   Stolzenberg, Marieclaude ^c   Ruemmele, Corinne ^b   Rings, Edmond Hhm ^f   Casanova, Jeanlaurent ^a,b,c   Piloquet, Hugues ^g   Biver, Armand ^h   Breton, Anne ⁱ   Ochs, Hans D ^d   Hermine, Olivier ^a,b,j   Fischer, Alain ^a,b,c   Goulet, Olivier ^a,b   Cerfbensussan, Nadine ^a,b   Ruemmele, Frank M ^a,b   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSERM   (France)

^d UNIVERSITY OF WASHINGTON   (United States)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g NANTES UNIVERSITY HOSPITAL   (France)

^h Hôpital Pédiatrique du Luxembourg   (Luxembourg)

ⁱ TOULOUSE UNIVERSITY HOSPITAL   (France)

^j CNRS   (France)

more..

Author keywords

Autoimmune Enteropathy; CD25; Infants; Regulatory T Cells

Indexed keywords

AZATHIOPRINE; INTERLEUKIN 2 RECEPTOR ALPHA; MESSENGER RNA; POLYADENYLIC ACID; PREDNISONE; RAPAMYCIN; STEROID; TACROLIMUS; TRANSCRIPTION FACTOR FOXP3; FORKHEAD TRANSCRIPTION FACTOR; FOXP3 PROTEIN, HUMAN; IL2RA PROTEIN, HUMAN; IMMUNOSUPPRESSIVE AGENT;

ARTICLE; AUTOIMMUNE ENTEROPATHY; CD4+ CD25+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CELL FUNCTION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EFFECTOR CELL; ENTEROPATHY; FEMALE; FLOW CYTOMETRY; GASTROENTEROLOGY; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOLOGICAL PARAMETERS; INFANT; MALE; MOLECULAR BIOLOGY; NEWBORN; NEWBORN DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; REGULATORY MECHANISM; REGULATORY T LYMPHOCYTE; TOTAL PARENTERAL NUTRITION; AUTOIMMUNE DISEASES; BLOOD; CASE CONTROL STUDY; CD4 LYMPHOCYTE COUNT; CELL CULTURE; CHILD; COCULTURE; CONFOCAL MICROSCOPY; DOWN REGULATION; GENETICS; IMMUNOLOGY; INTESTINAL DISEASES; MORTALITY; MUTATION; ONSET AGE; OPEN READING FRAME; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

AGE OF ONSET; AUTOIMMUNE DISEASES; CASE-CONTROL STUDIES; CD4 LYMPHOCYTE COUNT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; COCULTURE TECHNIQUES; DOWN-REGULATION; FEMALE; FLOW CYTOMETRY; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INFANT; INFANT, NEWBORN; INTERLEUKIN-2 RECEPTOR ALPHA SUBUNIT; INTESTINAL DISEASES; MALE; MICROSCOPY, CONFOCAL; MUTATION; OPEN READING FRAMES; PARENTERAL NUTRITION, TOTAL; PROMOTER REGIONS, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEVERITY OF ILLNESS INDEX; T-LYMPHOCYTES, REGULATORY; TREATMENT OUTCOME;

EID: 77956163134     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2010.06.006     Document Type: Article

References (29)

1. S. Akram, J.A. Murray, and D.S. Pardi Adult autoimmune enteropathy: Mayo Clinic Rochester experience Clin Gastroenterol Hepatol 5 2007 1282 1290
2. F.M. Ruemmele, N. Brousse, and O. Goulet Autoimmune enteropathymolecular concepts Curr Opin Gastroenterol 20 2004 587 591
3. T.A. Chatila, F. Blaeser, and N. Ho JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic dysregulation syndrome J Clin Invest 106 2000 R75 R81
4. R.S. Wildin, F. Ramsdell, and J. Peake X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy Nat Genet 27 2001 18 20
5. C.L. Bennett, J. Christie, and F. Ramsdell The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 Nat Genet 27 2001 20 21
6. R.S. Wildin, S. Smyk-Pearson, and A.H. Filipovich Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome J Med Genet 39 2002 537 545
7. T.R. Torgerson, A. Linane, and N. Moes Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene Gastroenterology 132 2007 1705 1717
8. J.D. Fontenot, M.A. Gavin, and A.Y. Rudensky Foxp3 programs the development and function of CD4+CD25+ regulatory T cells Nat Immunol 4 2003 330 336
9. S. Hori, T. Nomura, and S. Sakaguchi Control of regulatory T cell development by the transcription factor Foxp3 Science 299 2003 1057 1061
10. R. Khattri, T. Cox, S.A. Yasayko, and F. Ramsdell An essential role for Scurfin in CD4+CD25+ T regulatory cells Nat Immunol 4 2003 337 342
11. I. Kobayashi, and R. Shiari Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX) J Med Genet 38 2001 874 876
12. L. Bindl, T. Torgerson, and L. Perroni Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome) J Pediatr 147 2005 256 259
13. O. Baud, O. Goulet, and D. Canioni Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation N Engl J Med 344 2001 1758 1762
14. M.A. Gavin, T.R. Torgerson, and E. Houston Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development Proc Natl Acad Sci U S A 103 2006 6659 6664
15. M.R. Walker, D.J. Kasprowicz, and V.H. Gersuk Induction of FoxP3 and acquisition of T regulatory activity by stimulated human CD4+CD25 T cells J Clin Invest 112 2003 1437 1443
16. A.A. Caudy, S.T. Reddy, and T. Chatila CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes J Allergy Clin Immunol 119 2007 482 487
17. C.A. Aoki, C.M. Roifman, and Z.X. Lian IL-2 receptor alpha deficiency and features of primary biliary cirrhosis J Autoimmun 27 2006 50 53
18. R. Bacchetta, L. Passerini, and E. Gambineri Defective regulatory and effector T cell functions in patients with FOXP3 mutations J Clin Invest 116 2006 1713 1722
19. C.L. Bennett, M.E. Brunkow, and F. Ramsdell A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome Immunogenetics 53 2001 435 439
20. E. Gambineri, L. Perroni, and L. Passerini 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 J Allergy Clin Immunol 122 2008 1105 1112
21. D. Mathis, and C. Benoist A decade of AIRE Nat Rev Immunol 7 2007 645 650
22. M.H. Cheng, A.K. Shum, and M.S. Anderson What's new in the AIRE Trends Immunol 28 2007 321 327
23. S. Sauer, L. Bruno, and A. Hertweck T cell receptor signaling controls FOXP3 expression via PI3K, Akt, and mTOR PNAS 105 2008 7797 7802
24. G. Liu, S. Burns, and G. Huang The receptor S1P1 overrides regulatory T cell-mediated immune suppression through Akt-mTOR Nat Immunol 10 2009 769 779
25. E.F. De Zoeten, I. Lee, and L. Wang Foxp3 processing by proprotein convertases and control of regulatory T cell function J Biol Chem 284 2009 5709 5716
26. J.S. Bromberg Epigenetic mechanisms of regulation of FOXP3 expression Blood 114 2009 3727 3735
27. E. Gambineri, T.R. Torgerson, and H.D. Ochs 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 Curr Opin Rheumatol 15 2003 430 435
28. F.M. Ruemmele, N. Moes, N. Patey-Mariaud de Serre, F. Rieux-Laucat, and O. Goulet Clinical and molecular aspects of autoimmune enteropathy and IPEX-syndrome Curr Opin Gastroenterol 24 2008 742 748
29. J.E. Lopes, T.R. Torgerson, and L.A. Schubert Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor J Immunol 177 2006 3133 3142