Type 1 diabetes and autoimmune polyendocrine syndromes;Diabetes melito tipo 1 no contexto das poliendocrinopatias auto-imunes

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 52, Issue 2, 2008, Pages 198-204

  Queiroz, Márcia S ^a,b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Serviço de Endocrinologia   (Brazil)

Author keywords

Autoimmune polyendocrine syndromes; Type 1 diabetes mellitus

Indexed keywords

ADDISON DISEASE; ADULT; AUTOIMMUNE POLYENDOCRINOPATHY; CELIAC DISEASE; CHRONIC DISEASE; FEMALE; HUMAN; IMMUNOLOGY; INSULIN DEPENDENT DIABETES MELLITUS; MALE; PROTEIN LOSING GASTROENTEROPATHY; REVIEW; SYNDROME; X CHROMOSOME LINKED DISORDER;

ADDISON DISEASE; ADULT; CELIAC DISEASE; CHRONIC DISEASE; DIABETES MELLITUS, TYPE 1; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; POLYENDOCRINOPATHIES, AUTOIMMUNE; PROTEIN-LOSING ENTEROPATHIES; SYNDROME;

EID: 43249119640     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302008000200007     Document Type: Review

References (35)

1. Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells. J Allergy Clin Immunol. 2007;120(4):744-50.
2. Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med. 2004;350(20):2068-79.
3. Betterle C, Zanchetta R. Update on autoimmune polyendocrine syndromes (APS). Acta Biomed. 2003;74(1):9-33.
4. Neufeld M, Maclaren N, Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann. 1980;9(4):154-62.
5. Betterle C, Dal Pra C, Mantero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev. 2002;23(3):327-64.
6. Betterle C, Greggio NA, Volpato M. Clinical review 93: autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab. 1998;83(4):1049-55.
7. Powell BR, Buist NR, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr. 1982;100(5):731-7.
8. Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet. 2002;39(8):537-45.
9. Schatz DA, Winter WE. Autoimmune polyglandular syndrome. II: clinical syndrome and treatment. Endocrinol Metab Clin North Am. 2002;31(2):339-52.
10. Betterle C, Volpato M, Greggio AN, Presotto F. Type 2 polyglandular autoimmune disease (Schmidt's syndrome). J Pediatr Endocrinol Metab. 1996;9 Suppl 1:113-23.
11. Wildin RS, Freitas A. IPEX and FOXP3: clinical and research perspectives. J Autoimmun. 2005;25 Suppl:56-62.
12. Vyse TJ, Todd JA. Genetic analysis of autoimmune disease. Cell. 1996;85(3):311-8.
13. Ahonen P. Autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED): autosomal recessive inheritance. Clin Genet. 1985;27(6):535-42.
14. Ahonen P, Koskimies S, Lokki ML, Tiilikainen A, Perheentupa J. The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR. J Clin Endocrinol Metab. 1988;66(6):1152-7.
15. Robles DT, Fain PR, Gottlieb PA, Eisenbarth GS. The genetics of autoimmune polyendocrine syndrome type II. Endocrinol Metab Clin North Am. 2002;31(2):353-vii.
16. Kemp EH, Ajjan RA, Husebye ES, Peterson P, Uibo R, Imrie H, et al. A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients. Clin Endocrinol (Oxf). 1998;49(5):609-13.
17. Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kampe O, et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab. 2002;87(6):2568-74.
18. Bennett CL, Christie J, Ramsdell F, Brunkow ME, Ferguson PJ, Whitesell L, et al. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 2001;27(1):20-1.
19. Fontenot JD, Rudensky AY. A well adapted regulatory contrivance: regulatory T cell development and the forkhead family transcription factor Foxp3. Nat Immunol. 2005;6(4):331-7.
20. Yagi H, Nomura T, Nakamura K, Yamazaki S, Kitawaki T, Hori S, et al. Crucial role of FOXP3 in the development and function of human CD25+CD4+ regulatory T cells. Int Immunol 2004;16(11):1643-56.
21. Perheentupa J, Miettinen A. Type 1 autoimmune polyglandular disease. Ann Med Interne (Paris). 1999;150(4):313-25.
22. Betterle C, Lazzarotto F, Presotto F. Autoimmune polyglandular syndrome type 2: the tip of an iceberg? Clin Exp Immunol. 2004;137(2):225-33.
23. Oki K, Yamane K, Koide J, Mandai K, Nakanishi S, Fujikawa R, et al. A case of polyglandular autoimmune syndrome type II complicated with autoimmune hepatitis. Endocr J. 2006;53(5):705-9.
24. Shimomura H, Nakase Y, Furuta H, Nishi M, Nakao T, Hanabusa T, et al. A rare case of autoimmune polyglandular syndrome type 3. Diabetes Res Clin Pract. 2003;61(2):103-8.
25. Kordonouri O, Klinghammer A, Lang EB, Gruters-Kieslich A, Grabert M, Holl RW. Thyroid autoimmunity in children and adolescents with type 1 diabetes: a multicenter survey. Diabetes Care. 2002;25(8):1346-50.
26. Levy-Lahad E, Wildin RS. Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: further evidence for an X-linked lethal syndrome. J Pediatr. 2001;138(4):577-80.
27. Papadopoulos KI, Hallengren B. Polyglandular autoimmune syndrome type II in patients with idiopathic Addison's disease. Acta Endocrinol (Copenh). 1990;122(4):472-8.
28. Diagnosis and classification of diabetes mellitus. Diabetes Care. 2004;27 Suppl 1:S5-S10.
29. Barker JM, Goehrig SH, Barriga K, Hoffman M, Slover R, Eisenbarth GS, et al. Clinical characteristics of children diagnosed with type 1 diabetes through intensive screening and follow-up. Diabetes Care. 2004;27(6):1399-404.
30. Yu L, Rewers M, Gianani R, Kawasaki E, Zhang Y, Verge C, et al. Antiislet autoantibodies usually develop sequentially rather than simultaneously. J Clin Endocrinol Metab. 1996;81(12):4264-7.
31. Majeroni BA, Patel P. Autoimmune polyglandular syndrome, type II. Am Fam Physician. 2007;75(5):667-70.
32. Lucas KG, Ungar D, Comito M, Bayerl M, Groh B. Submyeloablative cord blood transplantation corrects clinical defects seen in IPEX syndrome. Bone Marrow Transplant. 2007;39(1):55-6.
33. Mazzolari E, Forino C, Fontana M, D'Ippolito C, Lanfranchi A, Gambineri E, et al. A new case of IPEX receiving bone marrow transplantation. Bone Marrow Transplant. 2005;35(10):1033-4.
34. Rao A, Kamani N, Filipovich A, Lee SM, Davies SM, Dalal J, et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood. 2007;109(1):383-5.
35. Sociedade Brasileira de Diabetes. Atualização brasileira sobre diabetes. Rio de Janeiro: Diagraphic, 2005.