Síndromes poliendócrinos múltiples autoinmunes

1. Schmidt MB. Eine biglandulare Erkrankung (Nebennieren und Schilddrüse) bei Morbus Addisonii. Verh Dtsch Ges Pathol 1926; 21:212-21.

2. 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; 17:399-403.

3. Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene. Nat Genet 1997; 17:393-8.

4. Husebye ES, Perheentupa J, Rautemaa R, Kämpe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med 2009; 265:514-29.

5. Ahonen P, Myllärniemi S, Sipilä I, Perheentupa J. Clinical variation of autoimmune polyendocrinopathy–candidiasis– ectodermal dystrophy (APECED) in a series of 68 patients. N Engl J Med 1990; 322:1829-36.

6. Bruserud Ø, Oftedal BE, Landegren N, et al. A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 2016; 101:2975- 83.

7. Ferre EM, Rose SR, Rosenzweig SD, et al. Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. JCI Insight 2016; 1(13):e88782.

8. Orlova EM, Sozaeva LS, Kareva MA, et al. Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1. J Clin Endocrinol Metab 2017; 102:3546-56.

9. Pollak U, Bar-Sever Z, Hoffer V, Marcus N, Scheuerman O, Garty BZ. Asplenia and functional hyposplenism in autoimmune polyglandular syndrome type 1. Eur J Pediatr 2009; 168:233-5.

10. Gutierrez MJ, Gilson J, Zacharias J, Ishmael F, Bingham CA. Childhood polyarthritis as early manifestation of autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy syndrome. Front Immunol 2017; 8:377.

11. Perheentupa J. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab 2006;91: 2843-50.

12. Halonen M, Eskelin P, Myhre AG, et al. AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasisectodermal dystrophy phenotype. J Clin Endocrinol Metab 2002; 87:2568-74.

13. Bensing S, Brandt L, Tabaroj F, et al. Increased death risk and altered cancer incidence pattern in patients with isolated or combined autoimmune primary adrenocortical insufficiency. Clin Endocrinol (Oxf) 2008; 69:697-704.

14. Anderson MS, Venanzi ES, Klein L, et al. Projection of an immunological self shadow within the thymus by the Aire protein. Science 2002; 298:1395-401.

15. Gardner JM, Devoss JJ, Friedman RS, et al. Deletional tolerance mediated by extrathymic Aire-expressing cells. Science 2008; 321:843-7.

16. Malchow S, Leventhal DS, Nishi S, et al. Aire-dependent thymic development of tumor-associated regulatory T cells. Science 2013; 339:1219-24.

17. Leonard JD, Gilmore DC, Dileepan T, et al. Identification of natural regulatory T cell epitopes reveals convergence on a dominant autoantigen. Immunity 2017; 47(1):107-117.e8.

18. Bruserud Ø, Oftedal BE, Wolff AB, Husebye ES. AIRE-mutations and autoimmune disease. Curr Opin Immunol 2016; 43:8-15.

19. Proust-Lemoine E, Saugier-Véber P, Lefranc D, et al. Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. Horm Res Paediatr 2010; 74:275-84.

20. Cetani F, Barbesino G, Borsari S, et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis ectodermal dystrophy, acting in a dominant fashion and strongly co segregating with hypothyroid autoimmune thyroiditis. J Clin Endocrinol Metab 2001; 86:4747-52.

21. Oftedal BE, Hellesen A, Erichsen MM, et al. Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity 2015; 42:1185-96.

22. Abbott JK, Huoh YS, Reynolds PR, et al. Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator (AIRE). J Autoimmun 2017 November 9 (Epub ahead of print).

23. Alimohammadi M, Björklund P, Hallgren A, et al. Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med 2008; 358: 1018-28.

24. Shum AK, Alimohammadi M, Tan CL, et al. BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease. Sci Transl Med 2013; 5:206ra139.

25. Alimohammadi M, Dubois N, Sköldberg F, et al. Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Proc Natl Acad Sci U S A 2009; 106:4396-401.

26. Landegren N, Sharon D, Shum AK, et al. Transglutaminase 4 as a prostate autoantigen in male subfertility. Sci Transl Med 2015; 7:292ra101.

27. Baekkeskov S, Aanstoot HJ, Christgau S, et al. Identification of the 64K autoantigen in insulin-dependent diabetes as the GABA-synthesizing enzyme glutamic acid decarboxylase. Nature 1990; 347:151-6.

28. Winqvist O, Karlsson FA, Kämpe O. 21-Hydroxylase, a major autoantigen in idiopathic Addison’s disease. Lancet 1992; 339:1559-62.

29. Söderbergh 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; 89:557-62.

30. Meager A, Visvalingam K, Peterson P, et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Med 2006; 3(7):e289.

31. Dalin F, Nordling Eriksson G, Dahlqvist P, et al. Clinical and immunological characteristics of autoimmune Addison’s disease: a nationwide Swedish multicenter study. J Clin Endocrinol Metab 2017; 102: 379-89.

32. Cheng MH, Fan U, Grewal N, et al. Acquired autoimmune polyglandular syndrome, thymoma, and an AIRE defect. N Engl J Med 2010; 362:764-6.

33. Wolff AS, Kärner J, Owe JF, et al. Clinical and serologic parallels to APS-I in patients with thymomas and autoantigen transcripts in their tumors. J Immunol 2014; 193:3880-90.

34. Walter JE, Rosen LB, Csomos K, et al. Broad-spectrum antibodies against selfantigens and cytokines in RAG deficiency. J Clin Invest 2015; 125:4135-48.

35. Kisand K, Bøe Wolff AS, Podkrajsek KT, et al. Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17- associated cytokines. J Exp Med 2010; 207: 299-308.

36. Puel A, Döffinger R, Natividad A, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. J Exp Med 2010; 207:291-7.

37. Wolff AS, Erichsen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab 2007; 92:595-603.

38. Li D, Streeten EA, Chan A, et al. Exome sequencing reveals mutations in AIRE as a cause of isolated hypoparathyroidism. J Clin Endocrinol Metab 2017; 102:1726-33.