Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism

Clinical Endocrinology

Volumn 85, Issue 4, 2016, Pages 544-550

  Sahoo, Saroj K ^a   Zaidi, Ghazala ^a   Srivastava, Rajni ^a   Sarangi, Aditya N ^a   Bharti, Niharika ^a   Eriksson, Daniel ^b   Bensing, Sophie ^b   Kämpe, Olle ^b,c   Aggarwal, Amita ^a   Aggarwal, Rakesh ^a   Bhatia, Eesh ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOIMMUNE REGULATOR PROTEIN; INTERFERON ALPHA ANTIBODY; INTERFERON ANTIBODY; INTERLEUKIN 22 ANTIBODY; UNCLASSIFIED DRUG;

ADULT; ANTIBODY TITER; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FEMALE; FOLLOW UP; HETEROZYGOTE; HUMAN; HYPOPARATHYROIDISM; INDIA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUCOCUTANEOUS CANDIDIASIS; NONSENSE MUTATION; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL;

EID: 84988665979     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.13111     Document Type: Article

References (36)

1. The Finnish-German APECED Consortium (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nature Genetics, 17, 399–403.
2. Nagamine, K., Peterson, P., Scott, H.S. et al. (1997) Positional cloning of the APECED gene. Nature Genetics, 17, 393–398.
3. Peterson, P., Org, T. & Rebane, A. (2008) Transcriptional regulation by AIRE: molecular mechanisms of central tolerance. Nature Reviews Immunology, 8, 948–957.
4. Chan, A.Y. & Anderson, M.S. (2015) Central tolerance to self revealed by the autoimmune regulator. Annals of the New York Academy of Sciences, 1356, 80–89.
5. Perheentupa, J. (2006) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Journal of Clinical Endocrinology and Metabolism, 91, 2843–2850.
6. Wolff, A.S.B., Erichsen, M.M., Meager, A. et al. (2007) Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. Journal of Clinical Endocrinology and Metabolism, 92, 595–603.
7. Meloni, A., Willcox, N., Meager, A. et al. (2012) Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. Journal of Clinical Endocrinology and Metabolism, 97, 1114–1124.
8. Heino, M., Scott, H.S., Chen, Q. et al. (1999) Mutation analyses of North American APS-1 patients. Human Mutation, 13, 69–74.
9. Cervato, S., Mariniello, B., Lazzarotto, F. et al. (2009) Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clinical Endocrinology, 70, 421–428.
10. Ahonen, P., Myllarniemi, S., Sipila, I. et al. (1990) Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. New England Journal of Medicine, 322, 1829–1836.
11. Pearce, S.H.S., Cheetham, T., Imrie, H. et al. (1998) A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. American Journal of Human Genetics, 63, 1675–1684.
12. Magitta, N.F., Pura, M., Wolff, A.S.B. et al. (2008) Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. European Journal of Endocrinology, 158, 705–709.
13. Boe, A.S., Knappskog, P.M., Myhre, A.G. et al. (2002) Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I. European Journal of Endocrinology, 146, 519–522.
14. Cervato, S., Morlin, L., Albergoni, M.P. et al. (2010) AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. Clinical Endocrinology, 73, 630–636.
15. Podkrajsek, K.T., Milenkovic, T., Odink, R.J. et al. (2008) Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1. European Journal of Endocrinology, 159, 633–639.
16. Buzi, F., Badolato, R., Mazza, C. et al. (2003) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? Journal of Clinical Endocrinology and Metabolism, 88, 3146–3148.
17. Meager, A., Visvalingam, K., Peterson, P. et al. (2006) Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. PLoS Medicine, 3, 1152–1164.
18. Meloni, A., Furcas, M., Cetani, F. et al. (2008) Autoantibodies against type I interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type I. Journal of Clinical Endocrinology and Metabolism, 93, 4389–4397.
19. Kisand, K., Wolff, A.S.B., Podkrajsek, K.T. et al. (2010) Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines. Journal of Experimental Medicine, 207, 299–308.
20. Puel, A., Doffinger, R., Natividad, A. et al. (2010) Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I. Journal of Experimental Medicine, 207, 291–297.
21. Meager, A., Wadhwa, M., Dilger, P. et al. (2003) Anti-cytokine autoantibodies in autoimmunity: preponderance of neutralizing autoantibodies against interferon-alpha, interferon-omega and interleukin-12 in patients with thymoma and/or myasthenia gravis. Clinical and Experimental Immunology, 132, 128–136.
22. Toth, B., Wolff, A.S.B., Halasz, Z. et al. (2010) Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy. Clinical Endocrinology, 72, 641–647.
23. Wolff, A.S.B., Sarkadi, A.K., Marodi, L. et al. (2013) Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type I features in early childhood. Journal of Clinical Immunology, 33, 1341–1348.
24. Orlova, E.M., Bukina, A.M., Kuznetsova, E.S. et al. (2010) Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations. Hormone Research in Paediatrics, 73, 449–457.
25. Alimohammadi, M., Björklund, P., Hallgren, A. et al. (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. New England Journal of Medicine, 358, 1018–1028.
26. Zaidi, G., Sahu, R.P., Zhang, L. et al. (2009) Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians. Clinical Genetics, 76, 441–448.
27. Oftedal, B., Kämpe, O., Meager, A. et al. (2011) Measuring autoantibodies against IL-17F and IL-22 in autoimmune polyendocrine syndrome type I by radioligand binding assay using fusion proteins. Scandinavian Journal of Immunology, 74, 327–333.
28. Wolff, A.S.B., Karner, J., Owe, J.F. et al. (2014) Clinical and serologic parallels to APS-I in patients with thymomas, and autoantigen transcripts in their tumors. Journal of Immunology, 193, 3880–3890.
29. Shum, A.K., Alimohammadi, M., Tan, C.L. et al. (2013) BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease. Science Translational Medicine, 5, 4396–4401. doi:10.1126.
30. Alimohammadia, M., Dubois, N., Skoldberg, F. et al. (2009) Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. Proceedings of the National Academy of Sciences, 106, 4396–4401.
31. Bhatia, E., Zaidi, G., Sarangi, A. et al. (2015) Autoimmune polyendocrine syndrome in India: clinical aspects, AIRE mutations, and functional analysis. Endocrine Abstracts. doi:10.1530/endoabs.37.GP.01.08.
32. Ferguson, B.J., Alexander, C., Rossi, S.W. et al. (2008) AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity. Journal of Biological Chemistry, 283, 1723–1731.
33. Perniola, R. & Musco, G. (2014) The biophysical and biochemical properties of the autoimmune regulator (AIRE) protein. Biochimica et Biophysica Acta, 1842, 326–337.
34. Capalbo, D., Martino, L.D., Giardino, G. et al. (2012) Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation. International Journal of Endocrinology, 2012, 353250.
35. Oftedal, B.E., Wolff, A.S.B., Bratland, E. et al. (2008) Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I. Clinical Immunology, 129, 163–169.
36. Hapnes, L., Willcox, N., Oftedal, B.E.V. et al. (2012) Radioligand-binding assay reveals distinct autoantibody preferences for type I interferons in APS I and myasthenia gravis subgroups. Journal of Clinical Immunology, 32, 230–237.