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New knowledge in the heredity of autoimmune diabetes.
1st part – Monogenetically determined types of autoimmune diabetes


Authors: J. Vavřinec;  J. Vosáhlo
Authors‘ workplace: Klinika dětí a dorostu 3. lékařské fakulty UK a FN Královské Vinohrady, Praha, přednosta doc. MUDr. Felix Votava, Ph. D.
Published in: Vnitř Lék 2007; 53(6): 694-701
Category: Reviews

Předneseno na Diabetologickém dnu 23. listopadu 2006 ve Zlíně k příležitosti významného životního jubilea prof. MUDr. Jaroslava Rybky, DrSc.

Overview

The incidence of type 1 diabetes (DM1) varies greatly among different nations and ethnic groups. Precise mapping of DM1 incidence and its trends is useful in the study of the interaction of genetic and non-genetic factors which influence the manifestation and course of the disease. Important progress has been made in the understanding of the mechanisms of autoimmune diabetes by the study of genes and autoimmune forms of monogenetic diabetes.

Key words:
monogenetic autoimmune diabetes mellitus – heredity – APS-I + II – IPEX


Sources

1. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 1997; 20: 1183-1197.

2. Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 1999; 22: 5-19.

3. Rewers M, Norris J, Dabelea D. Epidemiology of type I diabetes. In: Eisenbarth GS. Type I diabetes: Molecular, cellular, and clinical immunology. Barbara Davis Center for Childhood Diabetes, Online Edition Version, 2. ed. 2004: 56-87.

4. Libman I, Songer T, LaPorte R. How many people in the U.S. have IDDM? Diabetes Care 1993; 16: 841-842.

5. Rewers M. The changing face of the epidemiology of insulin-dependent diabetes mellitus: Research designs and models of disease causation. Ann Med 1991; 23: 419-426.

6. Vavřinec J, Cinek O. Autoimunitní inzulitida a diabetes mellitus 1. typu. In: Perušičová J. Trendy soudobé diabetologie. Praha: Galén 2000; 4: 129-158.

7. Kumar PG, Laloraya M, She JX. Population genetics and functions of the autoimmune regulator (AIRE). Endocrinol Metab Clin North Am 2002; 31: 321-338.

8. Cavadini P, Vermi W, Facchetti F et al. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest 2005; 115: 728-732.

9. Aaltonen J, Björses P, Sandkuijl L et al. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 1994; 8: 83-87.

10. Myhre AG, Halonen M, Eskelin P et al. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol (Oxf) 2001; 54: 211-217.

11. Aldasouqi SA, Akinsoto PA, Jabbour SA. Polyglandular autoimmune syndrome Type I. eMedicine 2006, www.emedicine.com

12. Ahonen P, Myllarniemi S. Clinical variation of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990; 322: 1829-1836.

13. Mandel M, Etzioni A, Theodor R et al. Pure red cell hypoplasia associated with polyglandular autoimmune syndrome type I. Isr J Med Sci 1989; 25: 138-141.

14. Hara T, Mizuno Y, Nagata M et al. Human gamma delta T-cell receptor-positive cell-mediated inhibition of erythropoiesis in vitro in a patient with type I autoimmune polyglandular syndrome and pure red blood cell aplasia. Blood 1990; 75: 941-950.

15. Friedman TC, Thomas PM, Fleisher TA et al. Frequent occurrence of asplenism and cholelithiasis in patients with autoimmune polyglandular disease type I. Am J Med 1991; 91: 625-630.

16. Perheentupa J, Miettinen A. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. In: Eisenbarth GS (ed). Endocrine and Organ Specific Autoimmunity. Austin: RG Landes 1999: 19-40.

17. Halonen M, Eskelin P, Myhre AG 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: 2568-2574.

18. Perniola R, Falorni A, Clemente MG et al. Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Eur J Endocrinol 2000; 143: 497-503.

19. Hogenauer C, Meyer RL, Netto GJ et al. Malabsorption due to cholecystokinin deficiency in a patient with autoimmune polyglandular syndrome type I. N Engl J Med 2001; 344: 270-274.

20. Barker JM, Eisenbarth GS. Type 1 diabetes: Mollecular, Cellular, and Clinical Immunology. Online edition, Version 23,5, www.uchs.edu.

21. Soderbergh A, Rorsman F, Halonen M et al. Autoantibodies against aromatic L-amino acid decarboxylase identifies a subgroup of patients with Addison’s disease. J Clin Endocrinol Metab 2000; 85: 460-463.

22. Gylling M, Tuomi T, Bjorses P et al. ss-Cell autoantibodies, Human Leukocyte Antigen II Alleles, and Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. J Clin Endocrinol Metab 2000; 85: 4434-4440.

23. Ekwall O, Hedstrand H, Haavik J et al. Pteridin-dependent hydroxylases as autoantigens in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 2000; 85: 2944-2950.

24. Merenmies L. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). Acta Ophthalmol Scand 2000; 78: 532-535.

25. Ahonen P, Myllarniemi S, Kahanpaa A et al. Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED). Acta Med Scand 1986; 220: 333-339.

26. Starzyk J, Kumorowicz-Kopiec M, Kowalczyk M et al. Natural history of asplenism in APECED-patient report. J Pediatr Endocrinol Metab 2001; 14: 443-449.

27. Schmidt MB. Eine biglandulare Erkrankung (Nebennieren und Schilddruse) bei Morbus Addisonii. Verh Dtsch Ges Pathol 1926; 21: 212-221.

28. Landin-Olsson M, Karlsson FA, Lernmark Å et al. Islet cell and thyrogastric antibodies in 633 consecutive 15- to 34-yr-old patients in the diabetes incidence study in Sweden. Diab 1992; 41: 1022-1027.

29. Savilahti E, Simell O, Koskimies S et al. Celiac disease in insulin-dependent diabetes mellitus. J Pediatr 1986; 108: 690-693.

30. Torrelo A, España A, Balsa J et al. Vitiligo and polyglandular autoimmune syndrome with selective IgA deficiency. Int J Dermatol 1992; 31: 343-344.

31. Tucker WS jr, Niblack GD, McLean RH et al. Serositis with autoimmune endocrinopathy: clinical and immunogenetic features. Medicine 1987; 66: 138-147.

32. Turkington RW, Lebovitz HE. Extra-adrenal endocrine deficiencies in Addison’s disease. Am J Med 1967; 43: 499-507.

33. Eisenbarth GS, Wilson PW, Ward F et al. The polyglandular failure syndrome: disease inheritance, HLA- type and immune function. Ann Intern Med 1979; 91: 528-533.

34. MacLaren NK, Riley WJ. Inherited susceptibility to autoimmune Addison’s disease is linked to human leukocyte antigens-DR3 and/or DR4, except when associated with type 1 autoimmune polyglandular syndrome. J Clin Endocrinol Metab 1986; 62: 455-459.

35. Vaidya B, Imrie H, Perros P et al. The cytotoxic T lymphocyte antigen-4 is a major Graves’ disease locus. Hum Mol Genet 1999; 8: 1195-1199.

36. Gambelunghe G, Falorni A, Ghaderi M et al. Microsatellite polymorphism of the MHC Class I Chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison’s disease. J Clin Endocrinol Metab 1999; 84: 3701-3707.

37. Sivarajan S, Fan CY, Akinsoto PA. Polyglandular autoimmune syndrome Type II. eMedicine 2006, www.emedicine.com

38. Norris JM, Barriga K, Hoffenberg EJ et al. Risk of celiac disease autoimmunity and timing of gluten introduction in the diet of infants at increased risk of disease. JAMA 2005; 293: 2343-2351.

39. Oelkers W, Diederich S, Bahr V. Therapeutic strategies in adrenal insufficiency. Ann Endocrinol (Paris) 2001; 62: 212-216.

40. Hori S, Nomura T, Sakaguchi S. Control of regulatory T cell development by the transcription factor Foxp3. Science 2003; 299: 1057-1061.

41. Fontenot JD, Gavin MA, Rudensky AY. Foxp3 programs the development and function of CD4+CD25+ regulatory T cells. Nat Immunol 2003; 4: 330-336.

42. Le Bras S, Geha RS. IPEX and the role of Foxp3 in the development and function of human Tregs. J Clin Invest 2006; 116: 1473-1475.

43. Bachetta R, Passerini L, Gambieri E et al. Defective regulatory and effector T cell functions in patients with FOXP3 mutations. J Clin Invest 2006; 116: 1713-1722.

44. Wildin RS, Freitas A. IPEX and FOXP3: clinical and research perspectives. J Autoimmun 2005, 25(Suppl): 56-62.

45. Rao A, Kamani N, Filipovich A et al. Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. Blood 2007; 109: 383-385.

46. De Benedetti F, Insalaco A, Diamanti A et al. Mechanistic association of a mild phenotype of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome. Clin Gastrol Hepatol 2006; 4: 653-659.

47. Flier JS, Bar RS, Muggeo M et al. The evolving clinical course of patients with insulin receptor autoantibodies: Spontaneous remission or receptor proliferation with hypoglycemia. J Clin Endocrinol Metab 1978; 47: 985-995.

48. Marx A, Wilisch A, Schultz A et al. Pathogenesis of myasthenia gravis. Virchows Arch 1997; 430: 355-364.

49. Mygland A, Aarli JA, Matre R et al. Ryanodine receptor antibodies related to severity of thymoma associated myasthenia gravis. J Neurol Neurosurg Psychiatr 1995; 57: 843-846.

50. Amiel LL, Machover D, Droz JP. Dyscrasie plasmocytaire avec arteriopathie, polyneuropathie, syndrome endocrinien. Ann Intern Med 1975; 65: 745-749.

51. Kim DE, Kim HJ, Kim YA et al. Kaposi’s sarcoma herpesvirus-associated Castleman’s disease with POEMS syndrome. Muscle Nerve 2000; 23: 436-439.

52. Uchigata Y, Hirata Y. Insulin Autoimmune Syndrome. In: Eisenbarth G (ed). Molecular Mechanisms of Endocrine and Organ Specific Autoimmunity. Austin (TX): RG Landes 1999: 133-148.

53. Dispenzieri A. POEMS Syndrome. Hematology Am Soc Hematol Educ Program 2005; 25: 360-367.

54. Dispenzieri A, Kyle RA, Lacy MQ et al. Poems syndrome: definitions and long-term outcome. Blood 2003; 101: 2496-2506.

55. Dispenzieri A, Gertz MA. Treatment options for POEMS syndrome. Expert Opin Pharmacother 2005; 6: 945-953.

56. Uchigata Y, Kuwata S, Tsushima T et al. Patients with Graves’ disease who developed insulin autoimmune syndrome (Hirata disease) possess HLA-Bw62/Cw4/DR4 carrying DRB1*0406. J Clin Endocrinol Metab 1993; 77: 249-254.

57. Uchigata Y, Hirata Y, Omori Y et al. Worldwide differences in the incidence of insulin autoimmune syndrome (Hirata disease) with respect to the evolution of HLA-DR4 alleles. Hum Immunol 2000; 61: 154-157.

58. Berio A, Piazzi A. A case of Kearns-Sayre syndrome with autoimmune thyroiditis and possible Hashimoto encephalopathy. Panminerva Med 2002; 44: 265-269.

59. Katsanos KH, Elisaf M. Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Am J Nephrol 2001; 21: 150-153.

60. Artuch R, Pavia C, Playan A et al. Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome. Horm Res 1998; 50: 99-104.

61. Remes AM, Majamaa-Voltti K, Karppa M et al. Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Semin Neurol 2005; 64: 976-981.

62. Inoue H, Tanizawa Y, Wasson J et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 1998; 20: 143-148.

63. Pennings RJ, Dikkeschei LD, Cremers CW et al. From gene to disease; mutations in the WFS1-gene as the cause of juvenile type 1 diabetes mellitus with optic atrophy (Wolfram syndrome). Ned Tijdschr Geneeskd 2002; 146: 985-987.

64. Khanim F, Kirk J Latif F et al. WFS1/wolframin mutations, Wolfram syndrome, and associated disesases. Hum Mutat 2001; 17: 357-367.

65. Domenech E, Gomez-Zaera M, Nunes V. Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families. Clin Genet 2004; 65: 463-469.

66. Hardy C, Khanim F, Torres R et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet 1999; 65: 1279-1290.

67. Giuliano F, Bannwarth S, Monnot S et al. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat 2005; 25: 99-100.

68. Viskari H, Paronen J, Keskinen P et al. Humoral beta-cell autoimmunity is rare in patients with the congenital rubella syndrome. Clin Exp Immunol 2003; 133: 378-383.

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