Autoimmune polyendocrine syndromes

Advances in Experimental Medicine and Biology

Volumn 552, Issue , 2004, Pages 204-218

  Eisenbarth, George S ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; AUTOANTIBODY; CD52 ANTIGEN; CHOLINERGIC RECEPTOR ANTIBODY; CYTOCHROME P450; ENDOMYSIUM ANTIBODY; GLIADIN ANTIBODY; GLUCOCORTICOID; GLUTAMATE DECARBOXYLASE; GLUTAMATE DECARBOXYLASE 65 ANTIBODY; HLA ANTIGEN; IMMUNOGLOBULIN G ANTIBODY; INSULIN RECEPTOR ANTIBODY; INTRINSIC FACTOR; PENICILLAMINE; SPERM ANTIBODY; STEROID 21 MONOOXYGENASE; THYROID ANTIBODY; THYROTROPIN RECEPTOR ANTIBODY; TRYPTOPHAN HYDROXYLASE;

ADDISON DISEASE; ALOPECIA; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CHRONIC ACTIVE HEPATITIS; CONGENITAL RUBELLA SYNDROME; DIARRHEA; DISEASE PREDISPOSITION; EATON LAMBERT SYNDROME; ECTODERMAL DYSPLASIA; GRAVES DISEASE; HASHIMOTO DISEASE; HUMAN; HYPOGONADISM; HYPOPARATHYROIDISM; IMMUNOGLOBULIN A DEFICIENCY; INSULIN DEPENDENT DIABETES MELLITUS; KEARNS SAYRE SYNDROME; KERATITIS; MALABSORPTION; MUCOCUTANEOUS CANDIDIASIS; MULTIPLE SCLEROSIS; MYASTHENIA GRAVIS; NAIL DYSTROPHY; PERNICIOUS ANEMIA; PRIORITY JOURNAL; PURE RED CELL ANEMIA; REVIEW; TRISOMY 21; VITILIGO;

ANTIBODIES; AUTOIMMUNE DISEASES; CHROMOSOMES, HUMAN, X; HUMANS; LINKAGE (GENETICS); POEMS SYNDROME; POLYENDOCRINOPATHIES, AUTOIMMUNE; RECEPTOR, INSULIN; SYNDROME;

EID: 12144283594     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Review

References (163)

1. Schmidt MB. Eine biglandulare erkrankung (Nebennieren und Schilddruse) bei morbus addisonii. Verh Dtsch Ges Pathol 1926; 21:212-221.
2. Nerup J. Addison's disease - clinical studies: A report of 108 cases. Acta Endocrinol 1974; 76:127-141.
3. Patel DD. Escape from tolerance in the human X-linked autoimmunity-allergic disregulation syndrome and the Scurfy mouse. J Clin Invest 2001; 107:155-157.
4. 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.
5. Flier JS, Kahn CR, Roth J et al. Antibodies that impair insulin receptor binding in an unusual diabetic syndrome with severe insulin resistance. Science 1975; 190:63-65.
6. 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.
7. Souadjian JV, Enriquez P, Silverstein MN et al. The spectrum of diseases associated with thymoma. Arch Intern Med 1974; 134:374-379.
8. Combs RM. Malignant thymoma, hyperthyroidism and immune disorder. South Med J 1968; 61:337-341.
9. Maggi G, Casadio C, Cavallo A et al. Thymoma: Results of 241 operated cases. Ann Thorac Surg 1991; 51:152-156.
10. Hirata Y, Ishizu H, Ouchi N et al. Insulin autoimmunity in a case with spontaneous hypoglycaemia. Japan J Diabetes 1970; 13:312-319.
11. Uchigata Y, Hirata Y. Insulin Autoimmune Syndrome (IAS, Hirata Disease). 1999; 133-148.
12. Imawari M, Akatsuka N, Ishibashi M et al. Syndrome of plasma cell dyscrasia, polyneuropathy, and endocrine disturbances. Ann Intern Med 1974; 81:490-493.
13. Miralles GD, O'Fallon JR, Talley NJ. Plasma-cell dyscrasia with polyneuropathy: The spectrum of POEMS syndrome. N Engl J Med 1992; 327:1919-1923.
14. Bjork E, Velloso LA, Kampe O et al. GAD autoantibodies in IDDM, stiff-man syndrome, and autoimmune polyendocrine syndrome type I recognize different epitopes. Diabetes 1994; 43:161-165.
15. Perheentupa J, Miettinen A. Autoimmune Polyendocrinopathy-Candidiasis- Ectodermal Dystrophy. 1999; 19-40.
16. De Bellis A, Bizzarro A, Rossi R et al. Remission of subclinical adrenocortical failure in subjects with adrenal autoantibodies. J Clin Endocrinol Metab 1993; 76:1002-1007.
17. Clemente MG, Obermayer-Straub P, Meloni A et al. Cytochrome P450 1A2 is a hepatic autoantigen in autoimmune polyglandular syndrome type 1. J Clin Endocrinol Metab 1997; 82:1353-1361.
18. Radetti G, Paganini C, Gentili L et al. Frequency of Hashimoto's thyroiditis in children with type 1 diabetes mellitus. Acta Diabetol 1995; 32:121-124.
19. 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. Diabetes 1992; 41:1022-1027.
20. Fairfax AJ, Leatham A. Idiopathic heart block: Association with vitiligo, thyroid disease, pernicious anemia, and diabetes mellitus. BMJ 1975; 4:322-324.
21. Davis RE, VcCann VJ, Stanton KG. Type 1 diabetes and latent pernicious anaemia. Med J Aust 1992; 156:160-162.
22. Peserico A, Rigon F, Semsenzato G et al. Vitiligo and polyglandular autoimmune disease with autoantibodies to melanin-producing cells. A new syndrome? Arch Dermatol 1981; 117:751-752.
23. Betterle C, Caretto A, Pedini B et al. Complement-fixing activity to melanin-producing cells preceding the onset of vitiligo in a patient with type I polyglandular failure. Arch Dermatol 1995; 128:123-124.
24. Torrelo A, España A, Balsa J et al. Vitiligo and polyglandular autoimmune syndrome with selective IgA deficiency. Int J Dermatol 1992; 31:343-344.
25. Stankler L, Bewsher PD. Chronic mucocutaneous candidiasis endocrine deficiency and alopecia areata. Br J Dermatol 1972; 86:238-245.
26. Garty BZ, Kauli R. Alopecia universalis in autoimmune polyglandular syndrome type I. West J Med 1990; 152:76-77.
27. Hedstrand H, Perheentupa J, Ekwall O et al. Antibodies against hair follicles are associated with alopecia totalis in autoimmune polyendocrine syndrome type I. J Invest Dermatol 1999; 113:1054-1058.
28. Bosch EP, Reith PE, Granner DK. Myasthenia gravis and Schmidt syndrome. Neurology 1994; 27:1179-1180.
29. Marino M, Ricciardi R, Pinchera A et al. Mild clinical expression of myasthenia gravis associated with autoimmune thyroid diseases. J Clin Endocrinol Metab 1997; 82:438-443.
30. Ekwall O, Sjoberg K, Miraldan R et al. Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1 [letter]. Lancet 1999; 354:568-
31. Collin P, Salmi J, Hällström O et al. Autoimmune thyroid disorders and coeliac disease. Eur J Endocrinol 1994; 130:137-140.
32. Reijonen H, Ilonen J, Knip M et al. Insulin-dependent diabetes mellitus associated with dermatitis herpetiformis: Evidence for heterogeneity of HLA-associated genes. Tissue Antigens 1991; 37:94-96.
33. Reunala T, Salmi J, Karvonen J. Dermatitis herpetiformis and celiac disease associated with Addison's disease. Arch Dermatol 1987; 123:930-932.
34. Tucker Jr WS, Niblack GD, McLean RH et al. Serositis with autoimmune endocrinopathy: Clinical and immunogenetic features. Medicine 1987; 66:138-147.
35. 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.
36. Merenmies L, Tarkkanen A. Chronic bilateral keratins in autoimmune polyendocrinopathy -candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis. Acta Ophthalmol Scand 2000; 78:532-535.
37. Ahonen P, Miettinen A, Perheentupa J. Adrenal and steroidal cell antibodies in patients with autoimmune polyglandular disease type I and risk of adrenocortical and ovarian failure. J Clin Endocrinol Metab 1987; 64:494-500.
38. Turkington RW, Lebovitz HE. Extra-adrenal endocrine deficiencies in Addison's disease. Am J Med 1967; 43:499-507.
39. Solimena M, Folli F, Aparisi R et al. Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome. N Engl J Med 1990; 322:1555-1560.
40. 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.
41. Selinger S, Tsai J, Pulini M et al. Autoimmune thrombocytopenia and primary biliary cirrhosis with hypoglycemia and insulin receptor autoantibodies. Ann Intern Med 1987; 107:686-688.
42. Rhim SH, Millar SE, Robey F et al. Autoimmune disease of the ovary induced by a ZP3 peptide from the mouse zona pellucida. J Clin Invest 1992; 89:28-35.
43. Muir A, Maclaren NK. Autoimmune diseases of the adrenal glands, parathyroid glands, gonads, and hypothalamic-pituitary axis. Endocrinol Metab Clin North Am 1991; 20:619-644.
44. Barkan AL, Kelch RP, Marshall JC. Isolated gonadotrope failure in the polyglandular autoimmune syndrome. N Engl J Med 1985; 312:1535-1540.
45. Eisenbarth GS, Wilson P, Ward F et al. HLA type and occurrence of disease in familial polyglandular failure. N Engl J Med 1978; 298:92-94.
46. Betterle C, Volpato M, Greggio AN et al. Type 2 polyglandular autoimmune disease ISchmitd's syndrome). J Pediatr Endocrinol Metab 1996; 9:113-123.
47. Bao F, Yu L, Babu S et al. One third of HLA DQ2 homozygous patients with type 1 diabetes express celiac disease associated transglutaminase autoantibodies. J Autoimmunity 1999; 13:143-148.
48. Papadopoulos KI, Hornblad Y, Hallengren B. The occurrence of polyglandular autoimmune syndrome type III associated with coeliac disease in patients with sarcoidosis. J Intern Med 1994; 236:661-663.
49. Furmaniak J, Sanders J, Rees Smith B. Autoantigens in the Autoimmune Endocrinopathies. 1999; 183-216.
50. 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.
51. 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(3):455-459.
52. Butler MG, Hodes ME, Conneally PM et al. Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome). Am J Med Genet 1984; 18:61-65.
53. Farid NR, Larsen B, Payne R et al. Polyglandular autoimmune disease and HLA. Tissue Antigens 1980; 16:23-29.
54. Friis SU. Coeliac disease, pathogenesis and clinical aspects. Acta Pathol Microbiol Immunol Scand 1996; 61:5-48.
55. Drosos AA, Christou L, Galanopoulou V et al. D-penicillamine induced myasthenia gravis: Clinical, serological and genetic findings. Clin Exp Rheumatol 1993; 11:387-391.
56. Valenta LJ, Bull RW, Hackel E et al. Correlation of the HLA-A1, B8 haplotypes with circulating autoantibodies in a family with increased incidence of autoimmune disease. Acta Endocrinol 1982; 100:143-149.
57. Yu L, Brewer KW, Gates S et al. DRB1*04 and DQ alleles: Expression of 21-hydroxylase autoantibodies and risk of progression to Addison's disease. J Clin Endocrinol Metab 1999; 84:328-335.
58. Bloch MH, Sowers JR. Vitiligo and polyglandular autoimmune endocrinopathy. Cutis 1985; 36:417-419.
59. Petite J, Rosset N, Chapuis B et al. Genetic factors predisposing to autoimmune diseases. Study of HLA antigens in a family with pernicious anemia and thyroid diseases. Schweiz Med Wochenschr 1987; 117:2032-2037.
60. Inoue D, Sato K, Sugawa H et al. Apparent genetic difference between hypothyroid patients with blocking-type thyrotropin receptor antibody and those without, as shown by restriction fragment length polymorphism analyses of HLA-DP loci. J Clin Endocrinol Metab 1993; 77:606-610.
61. Cho BY, Chung JH, Shong YK et al. A strong association between thyrotropin receptor-blocking antibody-positive atrophic autoimmune thyroiditis and HLAL-DR8 and HLA-DQB1*0302 in Koreans. J Clin Endocrinol Metab 1993; 77:611-615.
62. Santamaria P, Barbosa JJ, Lindstrom AL et al. HLA-DQB1-associated susceptibility that distinguishes Hashimoto's thyroiditis from Graves' disease in type I diabetic patients. J Clin Endocrinol Metab 1994; 78:878-883.
63. 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.
64. Heward JM, Allahabadia A, Armitage M et al. The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J Clin Endocrinol Metab 1999; 84:2398-2401.
65. Donner H, Rau H, Walfish PG et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type-1 diabetes mellitus*. J Clin Endocrinol Metab 1997; 82:143-146.
66. Vaidya B, Imrie H, Geatch DR et al. Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE1) genes in sporadic autoimmune Addison's disease. J Clin Endocrinol Metab 2000; 85:688-691.
67. 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.
68. Kristiansen OP, Larsen ZM, Pociot F. CTLA-4 in autoimmune diseases - a general susceptibility gene to autoimmunity? Genes Immun 2000; 1:170-184.
69. 12 deficiency? Proc Assoc Am Physicians 1996; 108:68-70.
70. de Carmo S, Kater CE, Dib SA et al. Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III. Eur J Endocrinol 2000; 142:187-194.
71. Bosi E, Becker F, Bonifacio E et al. Progression to type I diabetes in autoimmune endocrine patients with islet cell antibodies. Diabetes 1991; 40:977-984.
72. Wagner R, Genovese S, Bosi E et al. Slow metabolic deterioration towards diabetes in islet cell antibody positive patients with autoimmune polyendocrine disease. Diabetologia 1994; 37:365-371.
73. Blizzard RM, Kyle M. Studies of the adrenal antigens and antibodies in Addison's disease. J Clin Invest 1963; 42:1653-1660.
74. Soderbergh A, Winqvist O, Norheim I et al. Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease. Clin Endocrinol (Oxf) 1996; 45:453-460.
75. Julien JF, Samama P, Mallet J. Rat brain glutamic acid deciarboxylase sequence deduced from a cloned cDNA. J Neurochem 1990; 54:703-705.
76. Betterle C, Volpato M, Rees Smith B et al. II. Adrenal cortex and steroid 21-hydroxylase autoantibodies in children with organ-specific autoimmune diseases: Markers of high progression to clinical Addison's disease. J Clin Endocrinol Metab 1997; 82:939-942.
77. Tung KSK, Taguchi O, Teuscher C. Testicular and Ovarian Autoimmune Diseases. 1993.
78. Posillico JT, Wortsman J, Srikanta S et al. Parathyroid cell surface autoantibodies that inhibit parathyroid hormone secretion from dispersed human parathyroid cells. Bone Miner Res 1986; 1:475-483.
79. Posillico JT, Srikanta S, Eisenbarth G et al. Binding of monoclonal antibody (4F2) to its cell surface antigen on dispersed adenomatous parathyroid cells raises cytosolic calcium and inhibits parathyroid secretion. J Clin Endocrinol Metab 1987; 64:43-50.
80. Liblau RS, Caillat-Zucman S, Fischer AM et al. The prevalence of selective IgA deficiency in type 1 diabetes mellitus. Acta Pathol Microbiol Immunol Scand 1992; 100:709-712.
81. Alper CA, Marcus-Bagley D, Awdeh Z et al. Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype. Tissue Antigens 2000; 56:207-216.
82. Valenta LJ, Elias AN. Familial scleroderma in a kindred with high incidence of autoimmune disease: Correlation with HLA-A1/B8 haplotype. Arch Dermatol 1987; 123:1438-1440.
83. Candrina R, Giustina A. Development of type II autoimmune polyglandular syndrome in a patient with idiopathic thrombocytopenic purpura. Isr J Med Sci 1988; 24:57-58.
84. Vela BS, Dorin RI, Hartshorne MF. Case report 631: Neo-osseous porosis (metaphyseal osteopenia) in polyglandular autoimmune (Schmidt) syndrome. Skeletal Radiol 1990; 19:468-471.
85. Kita M, Ahmad L, Marians RC et al. Regulation and transfer of a murine model of thyrotropin receptor antibody mediated Graves' disease. Endocrinology 1999; 140:1392-1398.
86. Hirata Y, Ishizu H. Elevated insulin-binding capacity of serum proteins in a case of spontaneous hypoglycemia and mild diabetes not treated with insulin. Tohoku J Exp Med 1972; 107:277-286.
87. Martin S, Wolf-Eichbaum D, Duinkerken G et al. Development of type 1 diabetes despite severe hereditary B-lymphocyte deficiency. N Engl J Med 2001; 345:1036-1040.
88. Coles AJ, Wing M, Smith S et al. Pulsed monoclonal antibody treatment and autoimmune thyroid disease in multiple sclerosis. Lancet 1999; 354:1691-1695.
89. Imagawa A, Itoh N, Hanafusa T et al. Autoimmune endocrine disease induced by recombinant interferon-α therapy for chronic active type C hepatitis. J Clin Endocrinol Metab 1995; 80:922-926.
90. Hoffenberg EJ, Haas J, Drescher A et al. A trial of oats in newly diagnosed celiac disease. J Pediatr 2000; 137:361-366.
91. Ventura A, Neri E, Ughi C et al. Gluten-dependent diabetes-related and thyroid-related autoantibodies in patients with celiac disease. J Pediatr 2000; 137:263-265.
92. Hoffenberg EJ, Bao F, Eisenbarth GS et al. Silent celiac disease in American children at genetic risk. J Pediatr Gastroenterol Nutr 2000; 31:S65-
93. Atkinson MA, Bowman MA, Kao K et al. Lack of immune responsiveness to bovine serum albumin in insulin- dependent diabetes. N Engl J Med 1993; 329:1853-1858.
94. Burman P, Totterman TH, Oberg K et al. Thyroid autoimmunity in patients on long term therapy with leukocyte- derived interferon. J Clin Endocrinol Metab 1986; 63:1086-1090.
95. Papo T, Oksenhendler E, Izembart M et al. Antithyroid hormone antibodies induced by interferon-α. J Clin Endocrinol Metab 1992; 75:1484-1486.
96. Gisslinger H, Gilly B, Woloszczuk W et al. Thyroid autoimmunity and hypothyroidism during long-term treatment with recombinant interferon-alpha. Clin Exp Immunol 1992; 90:363-367-
97. Bach J-F, Yamamoto AM, Djabiri F et al. Etiopathogenesis of Myasthenia Gravis (MG). 1997.
98. Sanders J, Oda Y, Roberts S et al. The interaction of TSH receptor autoantibodies with 125I-labelled TSH receptor. J Clin Endocrinol Metab 1999; 84:3797-3802.
99. Karlsson FA, Burman P, Loof L et al. 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.
100. De Block CE, De LI, Van Gaal LF. 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.
101. Myhre AG, Halonen M, Eskelin P et al. Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. Clin Endocrinol (Oxf) 2001; 54:211-217.
102. 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.
103. Takasu N, Yamada T, Takasu M et al. Disappearance of thyrotropin-blocking antibodies and spontaneous recovery from hypothyroidism in autoimmune thyroiditis. N Engl J Med 1992; 326:513-518.
104. Verge CF, Gianani R, Kawasaki E et al. Number of autoantibodies (against insulin, GAD or ICA512/ IA2) rather than particular autoantibody specificities determines risk of type I diabetes. J Autoimmun 1996; 9:379-383.
105. Matsuki K, Juji T, Tokunaga K et al. HLA antigens in Japanese patients with myasthenia gravis. J Clin Invest 1990; 392:399.
106. Garlepp MI, Oawkins RL, Christiansen FT. HLA antigens and acetylcholine receptor antibodies in penicillamine induced myasthenia gravis. BMJ 1983; 286:1442-1443.
107. Nagvekar N, Moody AM, Moss P et al. A pathogenetic role for the thymoma in myasthenia gravis. Autosensitization of IL-4- producing T cell clones recognizing extracellular acetylcholine receptor epitopes presented by minority class II isotypes. J Clin Invest 1998; 101:2268-2277.
108. Taylor SI, Grunberger G, Marcus-Samuels B et al. Hypoglycemia associated with antibodies to the insulin receptor. N Engl J Med 1982; 307:1422-1426.
109. Dons RF, Havlik R, Taylor SI et al. Clinical disorders associated with autoantibodies to the insulin receptor. J Clin Invest 1992.
110. 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.
111. Mcevoy RC, Fedun B, Cooper LZ et al. Children at high risk of diabetes mellitus: New York studies of families with diabetes and of children with congenital rubella syndrome. Adv Exp Med Biol 1988; 246:221-227.
112. Rabinowe SL, Larsen PR, Antman EM et al. Amiodarone therapy and autoimmune thyroid disease. Increase in a new monoclonal antibody-defined T cell subset. Am J Med 1986; 81:53-57.
113. Shi Y, Zou M, Robb D et al. Typing for major histocompatibility complex class II antigens in thyroid tissue blocks: Association of Hashimoto's thyroiditis with HLA-DQA0301 and DQB0201 alleles. J Clin Endocrinol Metab 1992; 75:943-946.
114. Tomer Y, Barbesino G, Greenberg DA et al. Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: Evidence for genetic heterogeneity and gene interactions. J Clin Endocrinol Metab 1999; 84:4656-4664.
115. Badenhoop K, Walfish PG, Rau H et al. Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease. J Clin Endocrinol Metab 1995; 80:2112-2117.
116. De Block CE. [Diabetes mellitus type 1 and associated organ-specific autoimmunity]. Verh K Acad Geneeskd Belg 2000; 62:285-328.
117. Naughton GK, Eisenger M, Bystryn J-C. Detection of antibodies to melanocytes in vitiligo by specific immunoprecipitation. J Invest Dermatol 1983; 81:540-542.
118. Xie Z, Chen D, Jiao D et al. Vitiligo antibodies are not directed to tyrosinase. Arch Dermatol 1999; 135:417-422.
119. Nicholson LB, Wong FS, Ewins DL et al. Susceptibility to autoimmune thyroiditis in Down's syndrome is associated with the major histocompatibility complex class II DQA*0301 allele. Clin Endocrinol 1994; 41:381-383.
120. Larizza D, Bianchi MM, Lorini R et al. Autoimmunity, HLA, Gm and Km polymorphism in Turner's syndrome. Autoimmunity 1989; 4:69-78.
121. Failla P, Ruberto C, Pagano MC et al. Celiac disease in Down's syndrome with HLA serological and molecular studies. J Pediatr Gastroenterol Nutr 1996; 23:303-306.
122. Fleming S, Cowell C, Bailey J et al. Hashimoto's disease in Turner's syndrome. Clin Invest Med 1988; 11:243-246.
123. Abiru N, Maniatis AK, Yu L et al. Peptide and MHC specific breaking of humoral tolerance to native insulin with the B:9-23 peptide in diabetes prone and normal mice. Diabetes 2001; 50:1274-1281.
124. Cohen IR, Young DB. Autoimmunity, microbial immunity and the immunological homunculus. Immunol Today 1991; 105:105-110.
125. Zhang Z-G, Wall JR, Bernard NF. Tissue distribution and quantitation of a gene expressing a 64-kDa antigen associated with thyroid-associated ophthalmopathy. Clin Immunol Immunopathol 1996; 80:236-244.
126. Martin AM, Maxson MN, Leif J et al. Diabetes-prone and diabetes-resistant BB rats share a common major diabetes susceptibility locus, iddm4: Additional evidence for a "universal autoimmunity locus" on rat chromosome 4. Diabetes 1999; 48:2138-2144.
127. Schranz DB, Lernmark A. Immunology in diabetes: An update. Diabetes Metab Rev 1998; 14:3-29.
128. Petterson A, Jacob H, Lernmark A. Lessons from the Animal Models: The BB Rat 1996; 181-201.
129. Maloy KJ, Powrie F. Regulatory T cells in the control of immune pathology. Nat Immunol 2001; 2:816-822.
130. Jackson RA, Haynes BF, Burch WM et al. Ia+ T cells in new onset Graves' disease. J Clin Endocrinol Metab 1984; 59:187-190.
131. Kaye WA, Adri MN, Soeldner JS et al. Acquired defect in interleukin-2 production in patients with type I diabetes mellitus. N Engl J Med 1986; 315:920-924.
132. Wilson SB, Kent SC, Patton KT et al. Extreme Th1 bias of invariant Vα24JαQ T cells in type 1 diabetes. Nature 1998; 391:177-181.
133. Oelkers W, Diederich S, Bahr V. Therapeutic strategies in adrenal insufficiency. Ann Endocrinol (Paris) 2001; 62:212-216.
134. De Bellis AA, Falorni A, Laureti S et al. Time course of 21-hydroxylase antibodies and long-term remission of subclinical autoimmune adrenalins after corticosteroid therapy: Case report. J Clin Endocrinol Metab 2001; 86:675-678.
135. 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.
136. 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.
137. Aaltonen J, Björses P, Perheentupa J et al. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 1997; 17:399-403.
138. 137a. Anderson MS, Venzani ES, Klein L et al. Projection of an immunological self-shadow within the thymus by the Aire protein. Science 2002; 298:1395-1401.
139. Meyer G, Donner H, Herwig J et al. Screening for an AIRE1 mutation in patients with Addison's disease, type 1 diabetes, Graves' disease and Hashimoto's thyroiditis as well as in APECED syndrome. Clin Endocrinol (Oxf) 2001; 54:335-338.
140. 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.
141. 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.
142. Perniola R, Falorni A, Clemente MG et al. Organ-specific and nonorgan-specific autoantibodies in children and young adults with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Eur J Endocrinol 2000; 143:497-503.
143. Baud O, Goulet O, Canioni D et al. Treatment of the immune deregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation. N Engl J Med 2001; 344:1758-1762.
144. Palmieri G, Lastoria S, Colao A et al. Successful treatment of a patient with a thymoma and pure red-cell aplasia with octreotide and prednisone. N Engl J Med 1997; 336:263-265.
145. Marx A, Wilisch A, Schultz A et al. Pathogenesis of myasthenia gravis. Virchows Arch 1997; 430:355-364.
146. 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.
147. Geuder KI, Marx A, Witzemann V et al. Genomic organization and lack of transcription of the nicotinic acetylcholine receptor subunit genes in myasthenia gravis-associated thymoma. Lab Invest 1992; 452:458-
148. Amiel LL, Machover D, Droz JP. Dyscrasie plasmocytaire avec arteriopathie, polyneuropathie, syndrome endocrinien. Ann Intern Med 1975; 745:749-
149. 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.
150. Watanabe O, Maruyama I, Arimura K et al. Overproduction of vascular endothelial growth factor/ vascular permeability factor is causative in Crow-Fukase (POEMS) syndrome. Muscle Nerve 1998; 21:1390-1397.
151. Soubrier M, Dubost JJ, Serre AF et al. Growth factors in POEMS syndrome: Evidence for a marked increase in circulating vascular endothelial growth factor. Arthritis Rheum 1997; 40:786-787.
152. Scully RE, Mark EJ, McNeely WF et al. Case records of the Massachusetts general hospital: Case 34-1987. N Engl J Med 1987; 317:493-501.
153. Rabinowe SL, Rubin IL, George KL et al. Trisomy 21 (Down's syndrome): Autoimmunity, aging and monoclonal-antibody defined T-cell abnormalities. J Autoimmun 1989; 2:25-30.
154. 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.
155. Karasik A, O'Hara C, Srikanta S et al. Genetically programmed selective islet beta-cell loss in diabetic subjects with Wolfram's syndrome. Diabetes Care 1989; 12:135-138.
156. Ou D, Jonsen LA, Metzger DL et al. CD4+ and CD8+ T-cell clones from congenital rubella syndrome patients with IDDM recognize overlapping GAD65 protein epitopes. Implications for HLA class I and II allelic linkage to disease susceptibility. Hum Immunol 1999; 60:652-664.
157. Rabinowe SL, George KL, Loughlin R et al. Congenital rubella. Monoclonal antibody-defined T cell abnormalities in young adults. Am J Med 1986; 81:779-782.
158. Karounos DG, Wolinsky JS, Thomas JW. Monoclonal antibody to rubella virus capsid protein recognizes a β-cell antigen. J Immunol 1993; 150:3080-3085.
159. Bottazzo GF, Florin-Christensen A, Doniach D. Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies. Lancet 1974; 2:1279-1283.
160. Gianani R, Pugliese A, Bonner-Weir S et al. Prognostically significant heterogeneity of cytoplasmic islet cell antibodies in relatives of patients with type I diabetes. Diabetes 1992; 41:347-353.
161. 159a. Hori S, Nomura T, Sakaguchi S. Control of regulatory T cell development by the transcription factor Foxp3. Science 2003; 299:1057-1061.
162. Weetman AP. Determinants of autoimmune thyroid disease. Nat Immunol 2001; 2:769-770.
163. Benoist C, Mathis D. Autoimmunity provoked by infection: How good is the case for T cell epitope mimicry? Nat Immunol 2001; 2:797-801.