Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 12, 2009, Pages 4749-4756

  Kemp, E Helen ^a   Gavalas, Nikos G ^a   Krohn, Kai J E ^b   Brown, Edward M ^c   Watson, Philip F ^a   Weetman, Anthony P ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b TAMPERE UNIVERSITY HOSPITAL   (Finland)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; AUTOIMMUNE REGULATOR PROTEIN; CALCIUM ION; CALCIUM SENSING RECEPTOR; CALCIUM SENSING RECEPTOR AUTOANTIBODY; IMMUNOGLOBULIN G; INOSITOL PHOSPHATE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANTIBODY DETECTION; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME PHOSPHORYLATION; FEMALE; HUMAN; HUMAN CELL; HYPOPARATHYROIDISM; MALE; PARATHYROID FUNCTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD;

EID: 73249130654     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1080     Document Type: Article

References (35)

1. Perheentupa J 2006 Autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy. J Clin Endocrinol Metab 91:2843-2850
2. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, HeinoM, Krohn KJ, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimizu N 1997 Positional cloning of theAPECED gene. Nat Genet 17:393-398
3. The Finnish-German APECED Consortium 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403
4. Gibson TJ, Ramu C, Gemünd C, Aasland R 1998 The APECED polyglandular autoimmune syndrome protein, AIRE-1, contains the SAND domain and is probably a transcription factor. Trends Biochem Sci 23:242-244
5. Aasland R, Gibson TJ, Stewart AF 1995 The PHD finger: implications for chromatin-mediated transcriptional regulation. Trends Biochem Sci 20:56-59
6. Neufeld M, Maclaren N, Blizzard R 1980 Autoimmune polyglandular syndromes. Pediatr Ann 9:154-162
7. Krohn K, Uibo R, Aavik E, Peterson P, Savilahti K 1992 Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17 α-hydroxylase. Lancet 339:770-773
8. Winqvist O, Karlsson FA, Kämpe O 1992 21-Hydroxylase, a major autoantigen in idiopathic Addison's disease. Lancet 339:1559-1562
9. Uibo R, Aavik E, Peterson P, Perheentupa J, Aranko S, Pelkonen R, Krohn KJ 1994 Autoantibodies to cytochrome P450 enzymes P450scc, P450c17, and P450c21 in autoimmune polyglandular disease types I and II and in isolated Addison's disease. J Clin Endocrinol Metab 78:323-328
10. Tuomi T, Björses P, Falorni A, Partanen J, Perheentupa J, Lernmark A, Miettinen A 1996 Antibodies to glutamic acid decarboxylase and insulin-dependent diabetes in patients with autoimmune polyendocrine syndrome type I. J Clin Endocrinol Metab 81:1488-1494
11. Gylling M, Tuomi T, Björses P, Kontiainen S, Partanen J, Christie MR, Knip M, Perheentupa J, Miettinen A 2000 β-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 85:4434 -4440
12. Ekwall O, Hedstrand H, Grimelius L, Haavik J, Perheentupa J, Gustafsson J, Husebye E, Kämpe O, Rorsman F 1998 Identification of tryptophan hydroxylase as an intestinal autoantigen. Lancet 352:279-283
13. Hedstrand H, Ekwall O, Haavik J, Landgren E, Betterle C, Perheentupa J, Gustafsson J, Husebye E, Rorsman F, Kämpe O 2000 Identification of tyrosine hydroxylase as an autoantigen in autoimmune polyendocrine syndrome type I. Biochem Biophys Res Commun 267:456 -461
14. Gebre-Medhin G, Husebye ES, Gustafsson J, Winqvist O, Goksøyr A, Rorsman F, Kämpe O 1997 Cytochrome P450IA2 and aromatic L-amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I. FEBS Lett 412:439-445
15. Hedstrand H, Ekwall O, Olsson MJ, Landgren E, Kemp EH, Weetman AP, Perheentupa J, Husebye E, Gustafsson J, Betterle C, Kämpe O, Rorsman F 2001 The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type 1. J Biol Chem 276:35390-35395
16. Oftedal BE, Wolff AS, Bratland E, Kämpe O, Perheentupa J, Myhre AG, Meager A, Purushothaman R, Ten S, Husebye ES 2008 Radio-immunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. Clin Immunol 129:163-169
17. Kisand K, Link M, Wolff AS, Meager A, Tserel L, Org T, Murumägi A, Uibo R, Willcox N, Trebusak Podkrajsek K, Battelino T, Lobell A, Kämpe O, Lima K, Meloni A, Ergun-Longmire B, Maclaren NK, Perheentupa J, Krohn KJ, Scott HS, Husebye ES, Peterson P 2008 Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes. Blood 112:2657-2666
18. Posillico JT, Wortsman J, Srikanta S, Eisenbarth GS, Mallette LE, Brown EM 1986 Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells. J Bone Miner Res 1:475-483
19. Brandi ML, Aurbach GD, Fattorossi A, Quarto R, Marx SJ, Fitzpatrick LA 1986 Antibodies to bovine parathyroid cells in autoimmune hypoparathyroidism. Proc Natl Acad Sci USA 83:8366-8369
20. Fattorossi A, Aurbach GD, Sakaguchi K, Cama A, Marx SJ, Streeten EA, Fitzpatrick LA, Brandi ML 1988 Anti-endothelial cell antibodies: detection and characterisation in sera from patients with autoimmune hypoparathyroidism. Proc Natl Acad Sci USA 85:4015-4019
21. Alimohammadi M, Björklund P, Hallgren A, Pöntynen N, Szinnai G, Shikama N, Keller MP, Ekwall O, Kinkel SA, Husebye ES, Gustafsson J, Rorsman F, Peltonen L, Betterle C, Perheentupa J, Akerström G, Westin G, Scott HS, Holländer GA, Kämpe O 2008 Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 358:1018-1028
22. Li Y, Song YH, Rais N, Connor E, Schatz D, Muir A, Maclaren N 1996 Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 97:910-914
23. Mayer A, Ploix C, Orgiazzi J, Desbos A, Moreira A, Vidal H, Monier JC, Bienvenu J, Fabien N 2004 Calcium-sensing receptor autoantibodies are relevant markers of acquired hypoparathyroidism. J Clin Endocrinol Metab 89:4484-4488
24. Gavalas NG, Kemp EH, Krohn KJ, Brown EM, Watson PF, Weetman AP 2007 The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 92:2107-2114
25. Pelletier-Morel L, Fabien N, Mouhoub Y, Boitard C, Larger E 2008 Hyperparathyroidism in a patient with autoimmune polyglandular syndrome. Intern Med 47:1911-1915
26. 2+-sensing receptor from bovine parathyroid. Nature 366:575-580
27. Kifor O, McElduff A, LeBoff MS, Moore Jr FD, Butters R, Gao P, Cantor TL, Kifor I, Brown EM 2004 Activating antibodies to the calcium-sensing receptor in two patients with autoimmune hypoparathyroidism. J Clin Endocrinol Metab 89:548-556
28. Kemp EH, Waterman EA, Hawes BE, O'Neill K, Gottumukkala RV, Gawkrodger DJ, Weetman AP, Watson PF 2002 The melanin-concentrating hormone receptor 1, a novel target of autoantibody responses in vitiligo. J Clin Invest 109:923-930
29. Weetman AP, McGregor AM 1994 Autoimmune thyroid disease: further developments in our understanding. Endocr Rev 15:788-830
30. Hoedemaekers AC, van Breda Vriesman PJ, De Baets MH 1997 Myasthenia gravis as a prototype autoimmune receptor disease. Immunol Res 16:341-354
31. Nemeth EF 2002 Pharmacological regulation of parathyroid hormone secretion. Curr Pharm Des 8:2077-2087
32. Goswami R, Brown EM, Kochupillai N, Gupta N, Rani R, Kifor O, Chattopadhyay N 2004 Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. Eur J Endocrinol 150:9-18
33. Kifor O, Moore Jr FD, Delaney M, Garber J, Hendy GN, Butters R, Gao P, Cantor TL, Kifor I, Brown EM, Wysolmerski J 2003 A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab 88:60-72
34. Pallais JC, Kifor O, Chen YB, Slovik D, Brown EM 2004 Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor. N Engl J Med 351:362-369
35. Makita N, Sato J, Manaka K, Shoji Y, Oishi A, Hashimoto M, Fujita T, Iiri T 2007 An acquired hypocalciuric hypercalcemia autoantibody induces allosteric transition among active human Ca-sensing receptor conformations. Proc Natl Acad Sci USA 104:5443-5448