The Hypoparathyroidism of Autoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy Protective Effect of Male Sex

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 10, 2003, Pages 4602-4608

  Gylling, Mikhail ^a   Kääriäinen, Essi ^a   Väisänen, Riitta ^a   Kerosuo, Laura ^a   Solin, Marja Liisa ^a   Halme, Leena ^b   Saari, Seppo ^c   Halonen, Maria ^a,d   Kämpe, Olle ^e   Perheentupa, Jaakko ^a   Miettinen, Aaro ^a,f  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c NATL VET AND FOOD RES INSTITUTE   (Finland)

^d NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^e UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; CALCIUM SENSING RECEPTOR ANTIBODY; HLA ANTIGEN CLASS 2; PARATHYROID ANTIBODY; UNCLASSIFIED DRUG;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CHILD; FEMALE; HLA TYPING; HUMAN; HYPOTHYROIDISM; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOPATHOGENESIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEX DIFFERENCE;

ADOLESCENT; ADULT; AUTOANTIBODIES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; HYPOPARATHYROIDISM; INCIDENCE; MALE; PARATHYROID GLANDS; PARATHYROID HORMONE; POLYENDOCRINOPATHIES, AUTOIMMUNE; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; RNA, MESSENGER; SEX DISTRIBUTION; TRANSCRIPTION FACTORS;

EID: 10744230766     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030700     Document Type: Article

References (42)

1. The Finnish-German APECED Consortium 1997 An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domain. Nat Genet 17:399-403
2. Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, Lalioti MD, Mullis PE, Antonarakis SE, Kawasaki K, Asakawa S, Ito F, Shimitzu N 1997 Positional cloning of the APECED gene. Nat Genet 17: 393-398
3. Anderson MS, Venanzi ES, Klein L, Chen Z, Berzins S, Turley SJ, von Boehmer H, Bronson R, Dierich A, Benoist C, Mathis D 2002 Projection of immunological self-shadow within the thymus by the AIRE protein. Science 298:1395-1401
4. Liston A, Lesage S, Wilson J, Peltonen L, Goodnow CC 2003 AIRE regulates negative selection of organ-specific T cells. Nat Immunol 4:350-354
5. Ahonen P, Myllarniemi S, Sipila I, Perheentupa J 1990 Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 322:1829-1836
6. Perheentupa J 2002 APS-1/APECED: the clinical disease and therapy. Endocrinol Metab Clin North Am 31:295-320
7. Ahonen P, Miettinen A, Perheentupa J 1987 Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure. J Clin Endocrinol Metab 64:494-500
8. Tuomi T, Bjorses 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
9. Blizzard RM, Chee D, Davis W 1966 The incidence of parathyroid and other antibodies in the sera of patients with idiopathic hypoparathyroidism. Clin Exp Immunol 1:119-128
10. Irvine WJ, Scarth L 1969 Antibody to the oxyphil cells of the human parathyroid in idiopathic hypoparathyroidism. Clin Exp Immunol 4:505-510
11. Bottazzo GF, Pouplard A, Florin-Christensen A, Doniach D 1975 Autoantibodies to prolactin-secreting cells of human pituitary. Lancet 1:97-101
12. 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
13. Miettinen A, Ahonen P, Perheentupa J 1982 Parathyroid and other autoantibodies in patients with autoimmune polyendocrinopathy-candidosis- ectodermal dystrophy (APECED). Pediatr Res 16:889 (Abstract)
14. Brandi M-L, Aurbach GD, Fattorossi A, Quarto R, Marx SJ, Fitzpatrick LA 1986 Antibodies cytotoxic to bovine parathyroid cells in autoimmune hypoparathyroidism. Proc Natl Acad Sci USA 83:8366-8369
15. Perniola R, Falorni A, Clemente MG, Clemente MG, Forini F, Accogli E, Lobreglio G 2000 Organ-specific and non-organ-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy (APECED). Eur J Endocrinol 143:497-503
16. Fattorossi A, Aurbach GD, Sakaguchi K, Cama A, Marx SJ, Streeten EA, Fitzpatrick LA, Brandi ML 1988 Anti-endothelial cell antibodies: detection and characterization in sera from patients with autoimmune hypoparathyroidism. Proc Natl Acad Sci USA 85:4015-4019
17. Betterle C, Caretto A, Zeviani M, Pedini B, Salviati C 1985 Demonstration and characterization of anti-human mitochondria autoantibodies in idiopathic hypoparathyroidism and in other conditions. Clin Exp Immunol 62:353-360
18. Cavaco B, Leite V, Loureiro MM, Ferreira MF, Pereira MC, Santos MA, Sobrinho LG 1999 Spontaneously occurring anti-PTH autoantibodies must be considered in the differential diagnosis of patients with elevated serum PTH levels. J Endocrinol Invest 22:829-834
19. Li Y, Song Y-H, 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
20. Heino M, Peterson P, Kudoh J, Nagamine K, Lagerstedt A, Ovod V, Ranki A, Rantala I, Nieminen M, Tuukkanen J, Scott HS, Antonarakis SE, Shimizu N, Krohn K 1999 Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochem Biophys Res Commun 257: 821-825
21. Su D, Manley NR 2001 Hoxa3 and Pax1 transcription factors regulate epithelial cells death and proliferation during thymus and parathyroid organogenesis. Dev Biol 236:316-329
22. Xu P-X, Zheng W, Laclef C, Maire P, Maas RL, Petrs H, Xu Xin 2002 Eya1 is required for the morphogenesis of mammalian thymus, parathyroid and thyroid. Development 129:33-3034
23. Jerome LA, Papaioannou VE 2001 DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27:286-291
24. Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A 2001 Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet 27:293-298
25. Günther T, Chen Z-F, Kim J, Priemel M, Rueger JM, Amling M, Moseley JM, Martin TJ, Anderson DJ, Karsenty G 2000 Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 406:199-203
26. Rizzoli R, Pache JC, Didierjean L, Burger A, Bonjour JP 1994 A thymoma as a cause of true ectopic hyperparathyroidism. J Clin Endocrinol Metab 79: 912-915
27. 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
28. Freichel M, Zink-Lorenz A, Holloschi A, Hafner M, Flockerzi V, Raue F 1996 Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion. Endocrinology 137:3842-3848
29. Williams AJK, Bingley PJ, Bonifacio E, Palmer JP, Gale EAM 1997 A novel micro-assay for insulin autoantibodies. J Autoimmun 10:473-478
30. Halonen M, Eskelin P, Myhre AG, Perheentupa J, Husebye ES, Kämpe O, Rorsman F, Peltonen L, Ulmanen I, Partanen J 2002 AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. J Clin Endocrinol Metab 87:2568-2574
31. Bart J, Groen HJM, van der Graaf TA, Hollema H, Hendrikse H, Vaalburg W, Sleijfer DT, De Vries EGE 2002 An oncological view on the blood-testis barrier. Lancet Oncol 3:357-363
32. Whitacre CC 2001 Sex differences in autoimmune disease. Nat Immunol 2:777-780
33. Liva SM, Voskuhl RR 2001 Testosterone acts directly on CD4+ T lymphocytes to increase IL-10 production. J Immunol 167:2060-2067
34. Garfield N, Karaplis AC 2001 Genetics and animal models of hypoparathyroidism. Trends Endocrinol Metab 12:288-294
35. Irvine WJ, Barnes EW 1975 Addison's disease, ovarian failure and hypoparathyroidism. Clin Endocrinol (Oxf) 4:379-433
36. Bruyette DS, Feldman EC 1988 Primary hypoparathyroidism in the dog. Report of 15 cases and review of 13 previously reported cases. J Vet Intern Med 2:7-14
37. Krug J, Williams AJK, Beales PE, Doniach I, Gale EAM, Pozzilli P 1991 Parathyroiditis in the non-obese diabetic mouse - a new finding. J Endocrinol 131:193-196
38. Moulias R, Goust JM, Muller-Berat CN 1971 Hypoparathyroidism and cell-mediated immunity. Lancet 1:1239
39. Wortsman J, McConnachi P, Baker Jr JR, Mallette LE 1992 T-lymphocyte activation in adult-onset idiopathic hypoparathyroidism. Am J Med 92: 352-356
40. Kumar V, Valeski JE, Wortsman J 1996 Celiac disease and hypoparathyroidism: cross-reaction of endomysial antibodies with parathyroid tissue. Clin Diagn Lab Immunol 3:143-146
41. Kifor O, Moor 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
42. Derbinski J, Schulte A, Kyewski B, Klein L 2001 Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self. Nat Immunol 2:1032-1039