IPEX Syndrome
IPEX Syndrome
Immunodysregulation Polyendocrinopathy Enteropathy X-linked Syndrome is a rare disease linked to the dysfunction of the transcriptional activator.
Child with IPEX syndrome
http://som.ucdenver.edu/
Diabetes in Youth
http://www.ucdenver.edu
Cells of the Immune System
http://www.med.umich.edu/
T Regulatory Cells and Stem Cell Transplantation
Armin Ghobadi, MD
http://hematology.im.wustl.
Type 4 Hypersensitivity and Autoimmunity
http://web.ics.purdue.edu
Type 1 Diabetes
Mark Anderson, MD,PhD
http://physio.ucsf.edu
Immune Tolerance
Dr. Prakash Nagarkatti
http://pathmicro.med.sc.edu
Regulatory T cells, or Tregs
http://bmdcr.bsd.uchicago.edu
IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)
http://www.sbs.utexas.edu/
Immune system
http://www.sbs.utexas.edu/
Disruption of Healthy Tissue by the Immune Response
http://ww2.madonna.edu
Regulatory T Cells
M. Carrie Miceli
http://www.lsic.ucla.edu/
Immunology: Gene Expression and Natural Defense Systems
http://faculty.irsc.edu
58 Published articles on IPEX Syndrome
1. d'Hennezel E, Bin Dhuban K, Torgerson T, Piccirillo C. The
immunogenetics ofimmune dysregulation, polyendocrinopathy, enteropathy, X
linked (IPEX) syndrome. J Med Genet. 2012 May;49(5):291-302.
2.
Paludo L, Souza SL, Só MV, Rosa RA, Vier-Pelisser FV, Duarte MA. An in
vivoradiographic evaluation of the accuracy of Apex and iPex electronic
Apexlocators. Braz Dent J. 2012;23(1):54-8.
3. Barzaghi F, Passerini L, Gambineri E, Ciullini Mannurita S,
Cornu T, Kang ES, Choe YH, Cancrini C, Corrente S, Ciccocioppo R,
Cecconi M, Zuin G, Discepolo V,Sartirana C, Schmidtko J, Ikinciogullari
A, Ambrosi A, Roncarolo MG, Olek S,Bacchetta R. Demethylation analysis
of the FOXP3 locus shows quantitative defectsof regulatory T cells in
IPEX-like syndrome. J Autoimmun. 2012 Feb;38(1):49-58.Epub 2012 Jan 20.
4. Zennaro D, Scala E, Pomponi D, Caprini E, Arcelli D, Gambineri
E, Russo G,Mari A. Proteomics plus genomics approaches in primary
immunodeficiency. the caseof immune dysregulation, polyendocrinopathy,
enteropathy, X-linked (IPEX)syndrome. Clin Exp Immunol. 2012
Jan;167(1):120-8. doi:http://dx.doi.org/10.1111/
5. Bae KW, Kim BE, Choi JH, Lee JH, Park YS, Kim GH, Yoo HW, Seo
JJ. A novelmutation and unusual clinical features in a patient with
immune dysregulation,
6. Whitworth PW. Intact Percutaneous Excision (IPEX) for
Definitive Diagnosis of High-Risk Breast Lesions. Ann Surg Oncol. 2011
Oct;18(11):3095. Epub 2011 Sep 9.
7. Kasow KA, Morales-Tirado
VM, Wichlan D, Shurtleff SA, Abraham A, Persons DA,Riberdy JM.
Therapeutic in vivo selection of thymic-derived natural T regulatory
cells following non-myeloablative hematopoietic stem cell transplant for
IPEX.Clin Immunol. 2011 Nov;141(2):169-76. doi.
10.1016/j.clim.2011.07.005. Epub 2011 Aug 2.
8. Kobayashi I, Kubota M, Yamada M, Tanaka H, Itoh S, Sasahara Y,
Whitesell L,Ariga T. Autoantibodies to villin occur frequently in IPEX, a
severe immunedysregulation, syndrome caused by mutation of FOXP3. Clin
Immunol. 2011Oct;141(1):83-9. Epub 2011 Jun 13.
9. López SI, Ciocca M, Oleastro M, Cuarterolo ML, Rocca A, de
Dávila MT, Roy A,Fernández MC, Nievas E, Bosaleh A, Torgerson TR, Ruiz
JA. Autoimmune hepatitistype 2 in a child with IPEX syndrome. J Pediatr
Gastroenterol Nutr. 2011Dec;53(6):690-3.
10. Stöber EK, Duran-Sindreu F, Mercadé M, Vera J, Bueno R, Roig M. An
evaluationof root ZX and iPex apex locators. an in vivo study. J Endod.
2011May;37(5):608-10. Epub 2011 Mar 22.
11. Passerini L, Di
Nunzio S, Gregori S, Gambineri E, Cecconi M, Seidel MG,Cazzola G,
Perroni L, Tommasini A, Vignola S, Guidi L, Roncarolo MG, Bacchetta
R.Functional type 1 regulatory T cells develop regardless of FOXP3
mutations inpatients with IPEX syndrome. Eur J Immunol. 2011
Apr;41(4):1120-31. doi:http://dx.doi.org/10.1002/
12. Nelson-Filho P, Romualdo PC, Bonifácio KC, Leonardo MR, Silva RA,
Silva LA.Accuracy of the iPex multi-frequency electronic apex locator in
primary molars:an ex vivo study. Int Endod J. 2011 Apr;44(4):303-6.
doi:http://dx.doi.org/10.1111/
13. Harbuz R, Lespinasse J, Boulet S, Francannet C, Creveaux I,
Benkhelifa M,Jouk PS, Lunardi J, Ray PF. Identification of new FOXP3
mutations and prenataldiagnosis of IPEX syndrome. Prenat Diagn. 2010
Nov;30(11):1072-8.
14. Otsubo K, Kanegane H, Kobayashi I, Miyawaki T. [IPEX syndrome and
human Treg cells]. Nihon Rinsho Meneki Gakkai Kaishi.
2010;33(4):196-206. Review. Japanese.
15. Wang J, Li X, Jia Z,
Tian Y, Yu J, Bao L, Wu Y, Ni B. Reduced FOXP3expression causes IPEX
syndrome onset. An implication from an IPEX patient andhis disease-free
twin brother. Clin Immunol. 2010 Oct;137(1):178-80. Epub 2010Aug 14.
16. Tsuda M, Torgerson TR, Selmi C, Gambineri E, Carneiro-Sampaio M,
MannuritaSC, Leung PS, Norman GL, Gershwin ME. The spectrum of
autoantibodies in IPEXsyndrome is broad and includes anti-mitochondrial
autoantibodies. J Autoimmun.2010 Nov;35(3):265-8. Epub 2010 Jul 22.
17. Hannibal MC, Torgerson T. IPEX Syndrome. 2004 Oct 19 [updated 2011
Jan 27].In. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors.
GeneReviews™[Internet]. Seattle (WA). University of Washington, Seattle;
1993-. Availablefrom http://www.ncbi.nlm.nih.gov/
18. Huter EN, Natarajan K, Torgerson TR, Glass DD, Shevach EM.
Autoantibodies in scurfy mice and IPEX patients recognize keratin 14. J
Invest Dermatol. 2010May;130(5):1391-9. Epub 2010 Feb 11.
19.
Blanco Quirós A, Arranz Sanz E, Bernardo Ordiz D, Garrote Adrados JA.
Fromautoimmune enteropathy to the IPEX (immune dysfunction,
polyendocrinopathy,
20. d'Hennezel E, Ben-Shoshan M, Ochs HD, Torgerson TR, Russell LJ,
Lejtenyi C,Noya FJ, Jabado N, Mazer B, Piccirillo CA. FOXP3 forkhead
domain mutation andregulatory T cells in the IPEX syndrome. N Engl J
Med. 2009 Oct22;361(17):1710-3.
21. Scaillon M, Van Biervliet S, Bontems P, Dorchy H, Hanssens L,
Ferster A,Segers V, Cadranel S. Severe gastritis in an insulin-dependent
child with an IPEXsyndrome. J Pediatr Gastroenterol Nutr. 2009
Sep;49(3):368-70.
22. Seidel MG, Fritsch G, Lion T, Jürgens B, Heitger A, Bacchetta R,
LawitschkaA, Peters C, Gadner H, Matthes-Martin S. Selective engraftment
of donorCD4+25high FOXP3-positive T cells in IPEX syndrome after
nonmyeloablativehematopoietic stem cell transplantation. Blood. 2009 May
28;113(22):5689-91.
23. Dorsey MJ, Petrovic A, Morrow MR, Dishaw LJ, Sleasman JW. FOXP3
expressionfollowing bone marrow transplantation for IPEX syndrome after
reduced-intensityconditioning. Immunol Res. 2009;44(1-3):179-84.
24.
Radlović N, Janić D, Sajić S, Janković S, Jesić M, Leković Z, Petrović
R.[IPEX syndrome--case report]. Srp Arh Celok Lek. 2008
Sep-Oct;136(9-10):538-41.
25. Patey-Mariaud de Serre N, Canioni D, Ganousse S, Rieux-Laucat F,
Goulet O,Ruemmele F, Brousse N. Digestive histopathological presentation
of IPEX syndrome.Mod Pathol. 2009 Jan;22(1):95-102. Epub 2008 Sep 26.
26.
Halabi-Tawil M, Ruemmele FM, Fraitag S, Rieux-Laucat F, Neven B,
Brousse N,De Prost Y, Fischer A, Goulet O, Bodemer C. Cutaneous
manifestations of immunedysregulation, polyendocrinopathy, enteropathy,
X-linked (IPEX) syndrome. Br JDermatol. 2009 Mar;160(3):645-51. Epub
2008 Sep 15.
27. Costa-Carvalho BT, de Moraes-Pinto MI, de Almeida LC, de Seixas
Alves MT,Maia RP, de Souza RL, Barreto M, Lourenço L, Vicente AM,
Coutinho A,Carneiro-Sampaio M. A remarkable depletion of both naïve CD4+
and CD8+ with high proportion of memory T cells in an IPEX infant with a
FOXP3 mutation in theforkhead domain. Scand J Immunol. 2008
Jul;68(1):85-91. Epub 2008 May 15.
28. Yong PL, Russo P, Sullivan KE. Use of sirolimus in IPEX and
IPEX-likechildren. J Clin Immunol. 2008 Sep;28(5):581-7. Epub 2008 May
15.
29. van der Vliet HJ, Nieuwenhuis EE. IPEX as a result of mutations in FOXP3.Clin Dev Immunol. 2007;2007:89017. Review.
30. Zhan H, Sinclair J, Adams S, Cale CM, Murch S, Perroni L, Davies
G, AmroliaP, Qasim W. Immune reconstitution and recovery of FOXP3
(forkhead boxP3)-expressing T cells after transplantation for IPEX
(immune dysregulation,
31. Moraes-Vasconcelos D, Costa-Carvalho BT, Torgerson TR, Ochs HD.
Primaryimmune deficiency disorders presenting as autoimmune diseases.
IPEX and APECED. JClin Immunol. 2008 May;28 Suppl 1:S11-9. Epub 2008 Feb
9. Review.
32. Marabelle A, Meyer M, Demeocq F, Lachaux A. [From Ipex to foxp3. a
newcontribution of pediatrics to the understanding of the immune
system]. ArchPediatr. 2008 Jan;15(1):55-63. Epub 2007 Dec 26. Review.
French.
33. Ochs HD, Gambineri E, Torgerson TR. IPEX, FOXP3 and
regulatory T-cells. amodel for autoimmunity. Immunol Res.
2007;38(1-3):112-21. Review.
34. Lucas KG, Ungar D, Comito M, Groh B. Epstein Barr virus induced
lymphoma in achild with IPEX syndrome. Pediatr Blood Cancer. 2008
May;50(5):1056-7.
35. Moudgil A, Perriello P, Loechelt B,
Przygodzki R, Fitzerald W, Kamani N.Immunodysregulation,
polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome:an unusual
cause of proteinuria in infancy. Pediatr Nephrol.
2007Oct;22(10):1799-802. Epub 2007 Jul 13.
36. Li B, Samanta A, Song X, Iacono KT, Brennan P, Chatila TA,
Roncador G, BanhamAH, Riley JL, Wang Q, Shen Y, Saouaf SJ, Greene MI.
FOXP3 is a homo-oligomer and a component of a supramolecular regulatory
complex disabled in the humanXLAAD/IPEX autoimmune disease. Int Immunol.
2007 Jul;19(7):825-35. Epub 2007 Jun 22.
37. 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, RuemmeleFM. Severe food allergy as a variant of IPEX syndrome
caused by a deletion in anoncoding region of the FOXP3 gene.
Gastroenterology. 2007 May;132(5):1705-17.Epub 2007 Feb 23.
38. Zuber J, Viguier M, Lemaitre F, Senée V, Patey N, Elain G,
Geissmann F,Fakhouri F, Ferradini L, Julier C, Bandeira A. Severe FOXP3+
and naïve Tlymphopenia in a non-IPEX form of autoimmune enteropathy
combined with animmunodeficiency. Gastroenterology. 2007
May;132(5):1694-704. Epub 2007 Feb 21.
39. Heltzer ML, Choi JK, Ochs HD, Sullivan KE, Torgerson TR, Ernst LM.
Apotential screening tool for IPEX syndrome. Pediatr Dev Pathol.
2007Mar-Apr;10(2):98-105.
40. McLucas P, Fulchiero GJ Jr,
Fernandez E, Miller JJ, Zaenglein AL. Norwegianscabies mimicking
onychomycosis and scalp dermatitis in a child with IPEXsyndrome. J Am
Acad Dermatol. 2007 Feb;56(2 Suppl):S48-9.
41. Taddio A, Faleschini E, Valencic E, Granzotto M, Tommasini A,
Lepore L,Andolina M, Barbi E, Ventura A. Medium-term survival without
haematopoietic stem cell transplantation in a case of IPEX. insights
into nutritional andimmunosuppressive therapy. Eur J Pediatr. 2007
Nov;166(11):1195-7. Epub 2007 Jan 5.
42. Lucas KG, Ungar D, Comito M, Bayerl M, Groh B. Submyeloablative
cord bloodtransplantation corrects clinical defects seen in IPEX
syndrome. Bone MarrowTransplant. 2007 Jan;39(1):55-6. Epub 2006 Nov 20.
43.
Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, Shenoy
S.Successful bone marrow transplantation for IPEX syndrome after
reduced-intensity conditioning. Blood. 2007 Jan 1;109(1):383-5. Epub
2006 Sep 21.
44. McGinness JL, Bivens MM, Greer KE, Patterson JW, Saulsbury FT.
Immunedysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
(IPEX)associated with pemphigoid nodularis. a case report and review of
the literature.J Am Acad Dermatol. 2006 Jul;55(1):143-8. Review.
45. Le Bras S, Geha RS. IPEX and the role of Foxp3 in the development
andfunction of human Tregs. J Clin Invest. 2006 Jun;116(6):1473-5.
46.
Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C,
DagnaBricarelli F. Immune dysregulation, polyendocrinopathy,
enteropathy, X-linkedsyndrome (IPEX). report of the first prenatal
mutation testing. Prenat Diagn.2006 May;26(5):487-9.
47. Myers AK, Perroni L, Costigan C, Reardon W. Clinical and molecular
findingsin IPEX syndrome. Arch Dis Child. 2006 Jan;91(1):63-4.
48.
Wildin RS, Freitas A. IPEX and FOXP3. clinical and research
perspectives. JAutoimmun. 2005;25 Suppl:56-62. Epub 2005 Oct 21. Review.
49. Bindl L, Torgerson T, Perroni L, Youssef N, Ochs HD, Goulet O,
Ruemmele FM.Successful use of the new immune-suppressor sirolimus in
IPEX (immunedysregulation, polyendocrinopathy, enteropathy, X-linked
syndrome). J Pediatr.2005 Aug;147(2):256-9.
50. Mazzolari E, Forino C, Fontana M, D'Ippolito C, Lanfranchi A,
Gambineri E,Ochs H, Badolato R, Notarangelo LD. A new case of IPEX
receiving bone marrowtransplantation. Bone Marrow Transplant. 2005
May;35(10):1033-4.
51. Bakke AC, Purtzer MZ, Wildin RS. Prospective immunological
profiling in acase of immune dysregulation, polyendocrinopathy,
enteropathy, X-linked syndrome (IPEX). Clin Exp Immunol. 2004
Aug;137(2):373-8.
52. Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy,
53. Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular
features of the immunodysregulation, polyendocrinopathy, enteropathy, X
linked (IPEX)syndrome. J Med Genet. 2002 Aug;39(8):537-45. Review.
54.
Kobayashi I, Shiari R, Yamada M, Kawamura N, Okano M, Yara A, Iguchi
A,Ishikawa N, Ariga T, Sakiyama Y, Ochs HD, Kobayashi K. Novel mutations
of FOXP3in two Japanese patients with immune dysregulation,
polyendocrinopathy,
55. Bennett CL, Ochs HD. IPEX is a unique X-linked syndrome
characterized byimmune dysfunction, polyendocrinopathy, enteropathy, and
a variety of autoimmune phenomena. Curr Opin Pediatr. 2001
Dec;13(6):533-8. Review.
56. Bennett CL, Brunkow ME, Ramsdell F, O'Briant KC, Zhu Q, Fuleihan
RL, ShigeokaAO, Ochs HD, Chance PF. A rare polyadenylation signal
mutation of the FOXP3 gene (AAUAAA-->AAUGAA) leads to the IPEX
syndrome. Immunogenetics. 2001Aug;53(6):435-9.
57. Baud O, Goulet O, Canioni D, Le Deist F, Radford I, Rieu D,
Dupuis-Girod S,Cerf-Bensussan N, Cavazzana-Calvo M, Brousse N, Fischer
A, Casanova JL. Treatmentof the immune dysregulation,
polyendocrinopathy, enteropathy, X-linked syndrome(IPEX) by allogeneic
bone marrow transplantation. N Engl J Med. 2001 Jun7;344(23):1758-62.
58. Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ,
Whitesell L,Kelly TE, Saulsbury FT, Chance PF, Ochs HD. The immune
dysregulation,
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