Autoimmune polyendocrine syndromes

Autoimmunity Reviews - Tập 13 - Trang 85-89 - 2014
Maurizio Cutolo1
1Research Laboratories and Academic Division of Clinical Rheumatology, Department of Internal Medicine, University of Genova Italy, Viale Benedetto XV, 6, 16132 Genova Italy

Tài liệu tham khảo

Michels, 2010, Autoimmune polyglandular syndromes, Nat Rev Endocrinol, 6, 270, 10.1038/nrendo.2010.40 Barker, 2006, Clinical review: type 1 diabetes-associated autoimmunity: natural history, genetic associations, and screening, J Clin Endocrinol Metab, 91, 1210, 10.1210/jc.2005-1679 Eisenbarth, 1979, The polyglandular failure syndrome: disease inheritance, HLA type, and immune function, Ann Intern Med, 91, 528, 10.7326/0003-4819-91-4-528 Lindmark, 2013, AIRE expressing marginal zone dendritic cells balances adaptive immunity and T-follicular helper cell recruitment, J Autoimmun, 42, 62, 10.1016/j.jaut.2012.11.004 Aaltonen, 1994, An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21, Nat Genet, 8, 83, 10.1038/ng0994-83 Lindh, 2010, AIRE deficiency leads to impaired iNKT cell development, J Autoimmun, 34, 66, 10.1016/j.jaut.2009.07.002 Villasenor, 2005, AIRE and APECED: molecular insights into an autoimmune disease, Immunol Rev, 204, 156, 10.1111/j.0105-2896.2005.00246.x Perniola, 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, 10.1530/eje.0.1430497 Meloni, 2008, Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I, J Clin Endocrinol Metab, 93, 4389, 10.1210/jc.2008-0935 Puel, 2010, Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I, J Exp Med, 207, 291, 10.1084/jem.20091983 Alimohammadi, 2008, Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen, N Engl J Med, 358, 1018, 10.1056/NEJMoa0706487 Kisand, 2011, Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: clinical and pathogenetic implications, Eur J Immunol, 41, 1517, 10.1002/eji.201041253 Kisand, 2011, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome, Ann N Y Acad Sci, 1246, 77, 10.1111/j.1749-6632.2011.06308.x Bialkowska, 2011, Hepatitis and the polyglandular autoimmune syndrome, type 1, Arch Med Sci, 7, 536, 10.5114/aoms.2011.23427 Oliva-Hemker, 2006, Pernicious anemia and widespread absence of gastrointestinal endocrine cells in a patient with autoimmune polyglandular syndrome type I and malabsorption, J Clin Endocrinol Metab, 91, 2833, 10.1210/jc.2005-2506 Reato, 2011, Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation, J Clin Endocrinol Metab, 96, E1255, 10.1210/jc.2011-0414 Husebye, 2009, Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I, J Intern Med, 265, 514, 10.1111/j.1365-2796.2009.02090.x Perheentupa, 2002, APS-I/APECED: the clinical disease and therapy, 295 Ahonen, 1986, Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED), Acta Med Scand, 220, 333, 10.1111/j.0954-6820.1986.tb02774.x Wani, 2013, Autoimmune polyglandular syndrome type 1 with reversible dilated cardiomyopathy: complete recovery after correction of hypocalcemia and hypocortisolemia, J Pediatr Endocrinol Metab, 26, 373, 10.1515/jpem-2012-0201 Michels, 2009, Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2), J Intern Med, 265, 530, 10.1111/j.1365-2796.2009.02091.x Rottembourg, 2010, 21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison's disease, J Autoimmun, 35, 309, 10.1016/j.jaut.2010.07.001 Myhre, 2002, Autoimmune adrenocortical failure in Norway: autoantibodies and HLA class II associations related to clinical features, J Clin Endocrinol Metab, 87, 618, 10.1210/jcem.87.2.8192 Gombos, 2007, Analysis of extended human leukocyte antigen haplotype association with Addison's disease in three populations, Eur J Endocrinol, 157, 757, 10.1530/EJE-07-0290 Maclaren, 1986, 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, 62, 455, 10.1210/jcem-62-3-455 Reato, 2011, Premature ovarian failure in patients with autoimmune Addison's disease: clinical, genetic, and immunological evaluation, J Clin Endocrinol Metab, 96, E1255, 10.1210/jc.2011-0414 Ballarini, 2007, Genetic dissection of autoimmune polyendocrine syndrome type 2: common origin of a spectrum of phenotypes, Ann N Y Acad Sci, 1110, 159, 10.1196/annals.1423.018 Schilling, 1996, Who has vitamin B12 deficiency?, Proc Assoc Am Physicians, 108, 68 Baker, 2012, Predicting the onset of Addison's disease: ACTH, renin, cortisol, and 21-hydroxylase autoantibodies, Clin Endocrinol (Oxf), 76, 617, 10.1111/j.1365-2265.2011.04276.x Sanders, 1999, The interaction of TSH receptor autoantibodies with 125I-labelled TSH receptor, J Clin Endocrinol Metab, 84, 3797, 10.1210/jcem.84.10.6071 Wenzlau, 2011, Development of a novel autoantibody assay for autoimmune gastritis in type 1 diabetic individuals, Diabetes Metab Res, 27, 887, 10.1002/dmrr.1267 Karlsson, 1988, Major parietal cell antigen in autoimmune gastritis and pernicious anemia is the acid producing HK-ATPase of the stomach, J Clin Invest, 81, 475, 10.1172/JCI113344 De Block, 1999, 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, 84, 4062 Myhre, 2001, Autoimmune polyendocrine syndrome type 1 (APS I) in Norway, Clin Endocrinol (Oxf), 54, 211, 10.1046/j.1365-2265.2001.01201.x Soderbergh, 1996, Adrenal autoantibodies and organ-specific autoimmunity in patients with Addison's disease, Clin Endocrinol (Oxf), 45, 453, 10.1046/j.1365-2265.1996.8040813.x Norris, 2005, Risk of celiac disease autoimmunity and timing of gluten introduction in the diet of infants at increased risk of disease, JAMA, 18, 2343, 10.1001/jama.293.19.2343 Coles, 1999, Pulsed monoclonal antibody treatment and autoimmune thyroid disease in multiple sclerosis, Lancet, 354, 1691, 10.1016/S0140-6736(99)02429-0 Schreuder, 2008, High incidence of type 1 diabetes mellitus during or shortly after treatment with pegylated interferon alpha for chronic hepatitis C virus infection, Liver Int, 28, 39, 10.1111/j.1478-3231.2007.01610.x Badra, 2006, Serum islet cell autoantibodies during interferon alpha treatment in patients with HCV-genotype 4 chronic hepatitis, Clin Dev Immunol, 13, 11, 10.1080/17402520600557867 Reghina, 2012, Thyroid autoimmunity in 72 children with type 1 diabetes mellitus: relationship with pancreatic autoimmunity and child growth, J Pediatr Endocrinol Metab, 25, 723, 10.1515/jpem-2012-0090 Bakker, 2013, Frequent delay of coeliac disease diagnosis in symptomatic patients with type 1 diabetes mellitus: clinical and genetic characteristics, Eur J Intern Med, 24, 456, 10.1016/j.ejim.2013.01.016 Liu, 2005, Need for quantitative assessment of transglutaminase autoantibodies for celiac disease in screening-identified children, J Pediatr, 146, 494, 10.1016/j.jpeds.2004.11.028 Lupi, 2011, Diagnosis and treatment of autoimmune hypophysitis: a short review, J Endocrinol Invest, 34, e245 Schneller, 2013, Autoimmune polyendocrine syndrome: a case-based review, Pediatr Ann, 42, 203, 10.3928/00904481-20130426-12 Kobayashi, 2011, Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3, Clin Immunol, 141, 83, 10.1016/j.clim.2011.05.010 Sherer, 1997, Thymoma, thymic hyperplasia, thymectomy and autoimmune diseases (review), Int J Oncol, 10, 939 Li, 2013, New advances in the diagnosis and treatment of POEMS syndrome, Br J Haematol, 161, 303, 10.1111/bjh.12236 Paiva, 2006, Insulin autoimmune syndrome (Hirata disease) as differential diagnosis in patients with hyperinsulinemic hypoglycemia, Pancreas, 32, 431, 10.1097/01.mpa.0000220872.18153.72 Pellegrini-Bouiller, 1996, A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency, J Clin Endocrinol Metab, 81, 2790 Maceluch, 2006, The clinical diagnosis and molecular genetics of Kearns–Sayre syndrome: a complex mitochondrial encephalomyopathy, Pediatr Endocrinol Rev, 4, 117 Rigoli, 2012, Wolfram syndrome 1 and Wolfram syndrome 2, Curr Opin Pediatr, 24, 512, 10.1097/MOP.0b013e328354ccdf Husebye, 2010, Autoimmune polyendocrine syndromes: clues to type 1 diabetes pathogenesis, Immunity, 32, 479, 10.1016/j.immuni.2010.03.016 Kenna, 1967, Addison's disease and diabetes mellitus, Arch Dis Child, 42, 319, 10.1136/adc.42.223.319 Bottazzo, 1974, Islet-cell antibodies in diabetes mellitus with autoimmune polyendocrine deficiencies, Lancet, 2, 1279, 10.1016/S0140-6736(74)90140-8 Cutolo, 2012, Estrogen metabolism and autoimmunity, Autoimmun Rev, 11, A460, 10.1016/j.autrev.2011.11.014 Cutolo, 2007, Vitamin D in rheumatoid arthritis, Autoimmun Rev, 7, 59, 10.1016/j.autrev.2007.07.001 Straub, 2013, Role of neuroendocrine and neuroimmune mechanisms in chronic inflammatory diseases—the 10-year update, Semin Arthritis Rheum, 10.1016/j.semarthrit.2013.04.008