Novel neuronal and endocrine autoantibody targets in autoimmune polyendocrine syndrome type 1

Autoimmunity

Volumn 45, Issue 6, 2012, Pages 485-494

  Cocco, Cristina ^a   Meloni, Antonella ^b   Mariotti, Stefano ^c   Cossu, Efisio ^c   D'amato, Filomena ^a   Zulian, Stefania ^d   Tongiorgi, Enrico ^d   Ferri, Gian Luca ^a  

^a Dept Biomedical Science   (Italy)

^b Clinica Paediatrica II   (United Kingdom)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d UNIVERSITY OF TRIESTE   (Italy)

Author keywords

adrenal medulla; autoantibodies; Autoimmune Polyendocrine Syndrome; GHRH neurons; pituitary hormones

Indexed keywords

AUTOANTIBODY; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; HYPOPHYSIS HORMONE; LUTEINIZING HORMONE;

ABSORPTION; ADOLESCENT; ADRENAL MEDULLA; ADULT; AGED; ANIMAL TISSUE; ANTIGEN SPECIFICITY; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; AUTONOMIC NEUROPATHY; CEREBELLUM; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DONOR; EMOTION; ENZYMATIC ASSAY; FEMALE; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS HYPOPHYSIS SYSTEM; IMMUNOASSAY; IMMUNOHISTOCHEMISTRY; MALE; MEMORY; NERVE CELL; NEUROENDOCRINE SYSTEM; NEUROSECRETORY CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PREVALENCE; RAT; SCHOOL CHILD; SUBSTANTIA NIGRA;

ADOLESCENT; ADULT; AGED; ANIMALS; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; FEMALE; GROWTH HORMONE-RELEASING HORMONE; HUMAN GROWTH HORMONE; HUMANS; LUTEINIZING HORMONE; MALE; MIDDLE AGED; NERVOUS SYSTEM DISEASES; POLYENDOCRINOPATHIES, AUTOIMMUNE; RATS; RATS, SPRAGUE-DAWLEY; YOUNG ADULT;

EID: 84864998948     PISSN: 08916934     EISSN: 1607842X     Source Type: Journal    
DOI: 10.3109/08916934.2012.680632     Document Type: Article

References (37)

1. Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997; 17(4):399-403.
2. Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet 1997;17(4):393-398.
3. Anderson MS. Autoimmune endocrine disease. Curr Opin Immunol 2002;14(6):760-764.
4. Mathis D, Benoist C. A decade of AIRE. Nat Rev Immunol 2007;7(8):645-650.
5. Betterle C, Greggio NA, Volpato M. Clinical review: Autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1998;83:1049-1055.
6. Clemente MG, Obermayer-Straub P, et al. Cytochrome P4501A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1997;82(5): 1353-1361.
7. Perheentupa J. APS-I/APECED: The clinical disease and therapy. Endocrinol Metab Clin North Am 2002;31(2): 295-320.
8. Alimohammadi M, Bjorklund P, Hallgren A, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. New Engl J Med 2008;358: 1018-1028.
9. Ekwall O, Hedstrand H, Grimelius L, et al. Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 1998;352:279-283
10. Ahonen P, Myllarniemi S, Sipila I, et al. Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) in a series of 68 patients. N Engl J Med 1990;322:1829-1836.
11. Perheentupa J. Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy. J Clin Endocrinol Metab 2006;91(8): 2843-2850.
12. Ward L, Paquette J, Seidman E, Huot C, et al. Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressive therapy. J Clin Endocrinol Metab 1999;84:844-852.
13. Cocco C, Meloni A, Boi F, Pinna G, et al. Median eminence dopaminergic nerve terminals: A novel target in autoimmune polyendocrine syndrome? J Clin Endocrinol Metab 2005; 90(7):4108-4111.
14. Scherbaum WA, Bottazzo GF. Autoantibodies to vasopressin cells in idiopathic diabetes insipidus: Evidence for an autoimmune variant. Lancet 1983;1:897-901.
15. Clifton-Bligh P, Lee C, Smith H, et al. The association of diabetes insipidus with hypoparathyroidism. Addison's disease and mucocutaneous candidiasis. Aust N Z J Med 1980;10(5): 548-551.
16. Arvanitakis C, Knouss RF. Selective hypopituitarism. Impaired cell-mediated immunity and chronic mucocutaneouscandidiasis. JAMA 1973;17:1492-1495.
17. Bensing S, Fetissov SO, Mulder J, et al. Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. Proc Natl Acad Sci 2007;104(3):949-954.
18. O'Dwyer DT, Smith AI, Matthew ML, et al. Identification of the 49-kDa autoantigen associated with lymphocytic hypophysitis as -enolase. J Clin Endocrinol Metab 2002;87: 752-757.
19. Smith CJA, Oscarson M, Ronnblom L, et al. TSGA10 -A target for autoantibodies in Autoimmune Polyendocrine Syndrome Type 1 and Systemic Lupus Erythematosus. Scand J Immunol 2011;73(2):147-153.
20. Perniola R, Falorni A, Clemente MG, et al. Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune poly-endocrinopathy-candidiasisectodermal dystrophy (APECED). Eur J Endocrinol 2000; 143:497-503.
21. Soderbergh A, Myhre AG, Ekwall O, et al. Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 2004;89:557-562.
22. Husebye ES, Gebre-Medhin G, Tuomi T, et al. Autoantibodies against aromatic L-amino acid decarboxylase in autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 1997;82(1):147-150.
23. Husebye ES, Boe AS, Rorsman F, et al. Inhibition of aromatic L-amino acid decarboxylase activity by human autoantibodies. Clin Exp Immunol 2000;120(3):420-423.
24. Fetissov SO, Bensing S, Mulder J, et al. Autoantibodies in autoimmune polyglandular syndrome type I patients react with major brain neurotransmitter systems. J Comp Neurol 2009; 513(1):1-20.
25. Scott HS, Heino M, Peterson P, et al. Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Mol Endocrinol 1998; 12(8):1112-1119.
26. Rosatelli MC, Meloni A, Devoto M, et al. A common mutation in Sardinian autoimmune polyendocrinopathycandidiasis- ectodermal dystrophy patients. Hum Genet 1998;103(4):428-434
27. Ewing DJ, Martyn CN, Young RJ, et al. The value of cardiovascular autonomic function tests: 10 years experience in diabetes. Diabetes Care 1989;8:491-498.
28. Istenes I, Keresztes K, Hermanyi Z, et al. Relationship between autonomic neuropathy and hypertension-are we underestimating the problem? Diabet Med 2008; 25:863-866.
29. Boscolo S, Passoni M, Baldas V, et al. Detection of anti-brain serum antibodies using a semi-quantitative immunohistological method. J Immunol Meth 2006;20(309):139-149.
30. Yamamoto M, Iguchi G, Takeno R, et al. Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans. J Clin Invest 2011;121(1): 113-119.
31. Manto MU, Laute MA, Aguera M, et al. Effects of antiglutamic acid decarboxylase antibodies associated with neurological diseases. Ann Neurol 2007;61(6):544-551.
32. Valenzise M, Meloni A, Betterle C, et al. Chronic inflammatory demyelinating polyneuropathy as a possible novel component of autoimmune poly-endocrine-candidiasisectodermal dystrophy. Euro J Pediat 2009;168:237-240.
33. Björk E, Velloso LA, Kämpe O, Karlsson FA. GAD autoantibodies in IDDM, stiff-man syndrome, and autoimmune polyendocrine syndrome type I recognize different epitopes. Diabetes 1994;43(1):161-165.
34. Tuomi T, Björses P, Falorni A, et al. Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 1996;81(4):1488-1494.
35. Brown FM, Kamalesh M, Adri MN, et al. Anti-adrenal medullary antibodies in IDDM subjects and subjects at high risk of developing IDDM. Diabetes Care 1988;11:30-33.
36. Zanone MM, Peakman M, Purewal T, et al. Autoantibodies to nervous tissue structures are associated with autonomic neuropathy in type 1 (insulin-dependent) diabetes mellitus. Diabetologia 1993;36:564-569.
37. Zanone MM, Favaro E, Catalfamo E, et al. Autonomic function and autoantibodies to autonomic nervous tissues at follow-up in a cohort of young patients with type 1 diabetes. Effects of serum from diabetic patients on human adrenergic cells. J Neuroimmunol 2003;139:66-75.