Autoimmune polyendocrine syndromes

Autoimmunity Reviews

Volumn 13, Issue 2, 2014, Pages 85-89

  Cutolo, Maurizio ^a  

^a UNIVERSITY OF GENOA   (Italy)

Author keywords

Autoimmune polyendocrine syndromes (APS); Neuroendocrine immunology (NEI)

Indexed keywords

AUTOANTIBODY; CALCITRIOL; CALCIUM; HLA B8 ANTIGEN; HLA DQ1 ANTIGEN; HLA DQ2 ANTIGEN; HLA DR3 ANTIGEN; HLA DR4 ANTIGEN; HYDROCORTISONE; IMMUNOGLOBULIN G4; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE ANTIBODY; STEROID 21 MONOOXYGENASE; TRANSCRIPTION FACTOR PIT 1;

ADDISON DISEASE; ADRENAL INSUFFICIENCY; ADULT COMBINED PITUITARY HORMONE DEFICIENCY; ANTIGEN EXPRESSION; AUTOIMMUNE DISEASE; AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 2; AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 3; AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE 4; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTOIMMUNITY; CELIAC DISEASE; DISEASE ASSOCIATION; DISEASES; GENE MUTATION; HAPLOTYPE; HEART FAILURE; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; INSULIN AUTOIMMUNE SYNDROME; INSULIN DEPENDENT DIABETES MELLITUS; IPEX SYNDROME; KEARNS SAYRE SYNDROME; MUCOCUTANEOUS CANDIDIASIS; MULTIPLE ENDOCRINE ADENOMATOSIS; MUTATION; PERIPHERAL BLOOD MONONUCLEAR CELL; POEMS SYNDROME; REVIEW; STOMACH ACID SECRETION; T LYMPHOCYTE; THYMUS HYPERPLASIA; WOLFRAM SYNDROME;

AUTOIMMUNE POLYENDOCRINE SYNDROMES (APS); NEUROENDOCRINE IMMUNOLOGY (NEI);

ADDISON DISEASE; DIABETES MELLITUS, TYPE 1; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYENDOCRINOPATHIES, AUTOIMMUNE;

EID: 84887993202     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2013.07.006     Document Type: Review

References (57)

1. Michels A.W., Gottlieb P.A. Autoimmune polyglandular syndromes. Nat Rev Endocrinol 2010, 6:270-277.
2. Barker J.M. Clinical review: type 1 diabetes-associated autoimmunity: natural history, genetic associations, and screening. J Clin Endocrinol Metab 2006, 91:1210-1217.
3. Eisenbarth G.S., Wilson P.W., Ward F., Buckley C., Lebovita H. The polyglandular failure syndrome: disease inheritance, HLA type, and immune function. Ann Intern Med 1979, 91:528-533.
4. Lindmark E., Chen Y., Georgoudaki A.M., Dudziak D., Lindh E., Adams W.C., et al. AIRE expressing marginal zone dendritic cells balances adaptive immunity and T-follicular helper cell recruitment. J Autoimmun 2013, 42:62-70.
5. Aaltonen J., Björses P., Sandkuijl L., Perheentupa J., Peltonen L. An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 1994, 8:83-87.
6. Lindh E., Rosmaraki E., Berg L., Brauner H., Karlsson M.C., Peltonen L., et al. AIRE deficiency leads to impaired iNKT cell development. J Autoimmun 2010, 34:66-72.
7. Villasenor J., Benoist C., Mathis D. AIRE and APECED: molecular insights into an autoimmune disease. Immunol Rev 2005, 204:156-164.
8. Perniola R., Falorni A., Clemente M.G., Forini F., Accogli E., Lobreglio G. 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.
9. Meloni A., Furcas M., Cetani F., Marcocci C., Falorni A., Perniola R., et al. Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 2008, 93:4389-4397.
10. Puel A., Doffinger R., Natividad A., Chrabieh M., Barcenas-Morales G., Picard C., et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 2010, 207:291-297.
11. Alimohammadi M., Bjorklund P., Hallgren A., Pontynen N., Szinnai G., Shikama N., et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008, 358:1018-1028.
12. Kisand K., Lilic D., Casanova J.L., Peterson P., Meager A., Willcox N. Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications. Eur J Immunol 2011, 41:1517-1527.
13. Kisand K., Peterson P. Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome. Ann N Y Acad Sci 2011, 1246:77-91.
14. Bialkowska J., Zygmunt A., Lewinski A., Stankiewicz W., Knopik-Dabrowicz A., Szubert W., et al. Hepatitis and the polyglandular autoimmune syndrome, type 1. Arch Med Sci 2011, 7:536-539.
15. Oliva-Hemker M., Berkenblit G.V., Anhalt G.J., Yardley J.H. Pernicious anemia and widespread absence of gastrointestinal endocrine cells in a patient with autoimmune polyglandular syndrome type I and malabsorption. J Clin Endocrinol Metab 2006, 91:2833-2838.
16. Reato G., Morlin L., Chen S., Furmaniak J., Rees S.B., Masiero S., et al. Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation. J Clin Endocrinol Metab 2011, 96:E1255-E1261.
17. Husebye E.S., Perheentupa J., Rautemaa R., Kämpe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med 2009, 265:514-529.
18. Perheentupa J. APS-I/APECED: the clinical disease and therapy. Autoimmune Polyendocrine Syndromes 2002, 295-320. W.B. Saunders Company, Philadelphia. G.S. Eisenbarth (Ed.).
19. Ahonen P., Myllarniemi S., Kahanpaa A., Perheentupa J. Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED). Acta Med Scand 1986, 220:333-339.
20. Wani A.I., Farooqui K.J., Bashir M.I., Mir S.A., Lone A.A., Masoodi S.R. Autoimmune polyglandular syndrome type 1 with reversible dilated cardiomyopathy: complete recovery after correction of hypocalcemia and hypocortisolemia. J Pediatr Endocrinol Metab 2013, 26:373-376.
21. Michels A.W., Eisenbarth G.S. Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). J Intern Med 2009, 265:530-540.
22. Rottembourg D., Deal C., Lambert M., Mallone R., Carel J.C., Lacroix A., et al. 21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison's disease. J Autoimmun 2010, 35:309-315.
23. Myhre A.G., Undlien D.E., Lovas K., Uhlving S., Nedrebo B.G., Kristian J.F., et al. Autoimmune adrenocortical failure in Norway: autoantibodies and HLA class II associations related to clinical features. J Clin Endocrinol Metab 2002, 87:618-623.
24. Gombos Z., Hermann R., Kiviniemi M., Nejentsev S., Reimand K., Fadeyev V., et al. Analysis of extended human leukocyte antigen haplotype association with Addison's disease in three populations. Eur J Endocrinol 2007, 157:757-761.
25. Maclaren N.K., Riley W.J. 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.
26. Reato G., Morlin L., Chen S., Furmaniak J., Smith B.R., Masiero S., et al. Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation. J Clin Endocrinol Metab 2011, 96:E1255-E1261.
27. Ballarini A., Lee-Kirsch M.A. Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes. Ann N Y Acad Sci 2007, 1110:159-165.
28. 12 deficiency?. Proc Assoc Am Physicians 1996, 108:68-70.
29. Baker P.R., Nanduri P., Gottlieb P.A., Yu L., Klingensmith G.J., Eisenbarth G.S., et al. Predicting the onset of Addison's disease: ACTH, renin, cortisol, and 21-hydroxylase autoantibodies. Clin Endocrinol (Oxf) 2012, 76:617-624.
30. Sanders J., Oda Y., Roberts S., Kiddie A., Richards T., Bolton J., et al. The interaction of TSH receptor autoantibodies with 125I-labelled TSH receptor. J Clin Endocrinol Metab 1999, 84:3797-3802.
31. Wenzlau J.M., Gardner T.J., Frisch L.M., Davidson H.W., Hutton J.C. Development of a novel autoantibody assay for autoimmune gastritis in type 1 diabetic individuals. Diabetes Metab Res 2011, 27:887-890.
32. Karlsson F.A., Burman P., Loof L., Mardh S. Major parietal cell antigen in autoimmune gastritis and pernicious anemia is the acid producing HK-ATPase of the stomach. J Clin Invest 1988, 81:475-479.
33. De Block C.E., De Leeuw I.H., Van Gaal L.F. High prevalence of manifestations of gastric autoimmunity in parietal cell antibody-positive type 1 (insulin-dependent) diabetic patients. The Belgian Diabetes Registry. J Clin Endocrinol Metab 1999, 84:4062-4067.
34. Myhre A.G., Halonen M., Eskelin P., Ekwall O., Hedstrand H., Rorsman F., et al. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol (Oxf) 2001, 54:211-217.
35. Soderbergh A., Winqvist O., Norheim I., Rorsman F., Husebye E.S., Dolva O., et al. Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease. Clin Endocrinol (Oxf) 1996, 45:453-460.
36. Norris J.M., Barriga K., Hoffenberg E.J., Taki I., Miao D., Haas J.E., et al. Risk of celiac disease autoimmunity and timing of gluten introduction in the diet of infants at increased risk of disease. JAMA 2005, 18(293):2343-2351.
37. Coles A.J., Wing M., Smith S., Coraddu F., Greer S., Taylor C., et al. Pulsed monoclonal antibody treatment and autoimmune thyroid disease in multiple sclerosis. Lancet 1999, 354:1691-1695.
38. Schreuder T.C., Gelderblom H.C., Weegink C.J., Hamann D., Reesink H.W., Devries J.H., et al. High incidence of type 1 diabetes mellitus during or shortly after treatment with pegylated interferon alpha for chronic hepatitis C virus infection. Liver Int 2008, 28:39-46.
39. Badra G., Waked I., Selmi C., Saleh S.M., El Shaarawy A., Lotfy M. Serum islet cell autoantibodies during interferon alpha treatment in patients with HCV-genotype 4 chronic hepatitis. Clin Dev Immunol 2006, 13:11-15.
40. Reghina A.D., Albu A., Petre N., Mihu M., Florea S., Fica S. Thyroid autoimmunity in 72 children with type 1 diabetes mellitus: relationship with pancreatic autoimmunity and child growth. J Pediatr Endocrinol Metab 2012, 25:723-726.
41. Bakker S.F., Tushuizen M.E., Stokvis-Brantsma W.H., Aanstoot H.J., Winterdijk P., van Setten P.A., et al. Frequent delay of coeliac disease diagnosis in symptomatic patients with type 1 diabetes mellitus: clinical and genetic characteristics. Eur J Intern Med 2013, 24:456-460.
42. Liu E., Li M., Bao F., Miao D., Rewers M.J., Eisenbarth G.S., et al. Need for quantitative assessment of transglutaminase autoantibodies for celiac disease in screening-identified children. J Pediatr 2005, 146:494-499.
43. Lupi I., Manetti L., Raffaelli V., Lombardi M., Cosottini M., Iannelli A., et al. Diagnosis and treatment of autoimmune hypophysitis: a short review. J Endocrinol Invest 2011, 34:e245-e252.
44. Schneller C., Finkel L., Wise M., Hageman J.R., Littlejohn E. Autoimmune polyendocrine syndrome: a case-based review. Pediatr Ann 2013, 42:203-208.
45. Kobayashi I., Kubota M., Yamada M., Tanaka H., Itoh S., Sasahara Y., et al. Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3. Clin Immunol 2011, 141:83-89.
46. Sherer Y., Bardayan Y., Shoenfeld Y. Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (review). Int J Oncol 1997, 10:939-943.
47. Li J., Zhou D.B. New advances in the diagnosis and treatment of POEMS syndrome. Br J Haematol 2013, 161:303-315.
48. Paiva E.S., Pereira A.E., Lombardi M.T., Nishida S.K., Tachibana T.T., Ferrer C., et al. Insulin autoimmune syndrome (Hirata disease) as differential diagnosis in patients with hyperinsulinemic hypoglycemia. Pancreas 2006, 32:431-432.
49. Pellegrini-Bouiller I., Bélicar P., Barlier A., Gunz G., Charvet J.P., Jaquet P., et al. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 1996, 81:2790-2796.
50. Maceluch J.A., Niedziela M. The clinical diagnosis and molecular genetics of Kearns-Sayre syndrome: a complex mitochondrial encephalomyopathy. Pediatr Endocrinol Rev 2006, 4:117-137.
51. Rigoli L., Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr 2012, 24:512-517.
52. Husebye E.S., Anderson M.S. Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis. Immunity 2010, 32:479-487.
53. Kenna A.P. Addison's disease and diabetes mellitus. Arch Dis Child 1967, 42:319-321.
54. Bottazzo G.F., Florin-Christensen A., Doniach D. Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies. Lancet 1974, 2:1279-1283.
55. Cutolo M., Sulli A., Straub R.H. Estrogen metabolism and autoimmunity. Autoimmun Rev 2012, 11:A460-A464.
56. Cutolo M., Otsa K., Uprus M., Paolino S., Seriolo B. Vitamin D in rheumatoid arthritis. Autoimmun Rev 2007, 7:59-64.
57. Straub R.H., Bijlsma J.W., Masi A., Cutolo M. Role of neuroendocrine and neuroimmune mechanisms in chronic inflammatory diseases-the 10-year update. Semin Arthritis Rheum 2013 May 31, doi:pii:S0049-0172(13)00064-4.10.1016/j.semarthrit.2013.04.008 [Epub ahead of print].