The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia)
https://doi.org/10.14341/probl20156159-13
Abstract
This study was designed to ascertain the role of anti-interferon (IFN)-ω and -α2 antibodies (AB) in diagnostics of type 1 autoimmune polyglandular syndrome (APS-1) and evaluate specificity and sensitivity of the HEK-Blue cells method used to detect these antibodies. The study included 34 patients presenting with APS-1 and 21 patients with focal alopecia. All 100% of the patients with APS-1 ehxhibited high titers of anti IFN-ωantibodies; 97% of them had anti IFN-a2 antibodies. These antibodies were not found in the patients with focal alopecia. It is concluded that the measurement of anti IFN-α and α2 antibodies with the use of HEK-Blue cells is a highly specific and sensitive method for diagnostics of APS-1.
About the Authors
Elizaveta Mikhaylovna Orlova
Endocrinology Research Centre
Russian Federation
Russian Federation
Leyla Salikhovna Sozaeva
Endocrinology Research Centre
Russian Federation
Russian Federation
Maksim Evgen'evich Karmanov
Russian Children’s Clinical Hospital
Russian Federation
Russian Federation
Lars Ertesvåg Breivik
University of Bergen
Norway
PhD, postdoc researcher, Department of clinical science
Norway
PhD, postdoc researcher, Department of clinical science
Eystein Sverre Husebye
University of Bergen
Norway
PhD, Professor. Department of Clinical Science
Norway
PhD, Professor. Department of Clinical Science
Mariya Andreevna Kareva
Endocrinology Research Centre
Russian Federation
MD, PhD
Russian Federation
MD, PhD
References
1. Ahonen P. Autoimmune polyendocrinopathy — candidosis — ectodermal dystrophy (apeced): autosomal recessive inheritance. Clin Genet. 2008;27(6):535-542. doi: 10.1111/j.1399-0004.1985.tb02037.x.
2. Jääskeläinen J, Perheentupa J. Autoimmune polyendocrinopathy — candidosis —ectodermal dystrophy (apeced) — a diagnostic and therapeutic challenge. Pediatric Endocrinology Reviews. 2009;7(2):95-108.
3. Kyewski B, Klein L. A central role for central tolerance. Annu Rev Immunol. 2006;24(1):571-606. doi: 10.1146/annurev.immunol.23.021704.115601.
4. Anderson MS, Venanzi ES, Klein L, et al. Projection of an immunological self shadow within the thymus by the aire protein. Science. 2002;298(5597):1395-1401. doi: 10.1126/science.1075958.
5. Orlova EM, Bukina AM, Kuznetsova ES, et al. Autoimmune polyglandular syndrome type 1 in russian patients: clinical variants and autoimmune regulator mutations. Horm Res Paediatr. 2010;73(6):449-457. doi: 10.1159/000313585.
6. Meager A, Visvalingam K, Peterson P, et al. Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1. Plos Med. 2006;3(7):e289. doi: 10.1371/journal.pmed.0030289.
7. Pestka S, Krause CD, Walter Mr, Interferons, interferon-like cytokines, and their receptors. Immunol Rev. 2004;202(1):8-32. doi: 10.1111/j.0105-2896.2004.00204.x.
8. Vilcek J. Novel interferons. Nat Immunol. 2003;4(1):8-9. doi: 10.1038/ni0103-8.
9. Meager A, Wadhwa M, Dilger P, et al. 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. Clin Exp Immunol. 2003;132(1):128-136. doi: 10.1046/j.1365-2249.2003.02113.x.
10. Kisand K, Link M, Wolff ASB, et al. Interferon autoantibodies associated with aire deficiency decrease the expression of ifn-stimulated genes. Blood. 2008;112(7):2657-2666. doi: 10.1182/blood-2008-03-144634.
11. Breivik L, Oftedal BEV, Bøewolff AS, et al. A novel cell-based assay for measuring neutralizing autoantibodies against type i interferons in patients with autoimmune polyendocrine syndrome type 1. Clin Immunol. 2014;153(1):220-227. doi: 10.1016/j.clim.2014.04.013.
12. Meloni A, Furcas M, Cetani F, et al. Autoantibodies against type i interferons as an additional diagnostic criterion for autoimmune polyendocrine syndrome type i. J Clin Endocrinol Metab. 2008;93(11):4389-4397. doi: 10.1210/jc.2008-0935.
13. Oftedal BE, Bøewolff AS, Bratland E, et al. Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type i. Clin Immunol. 2008;129(1):163-169. doi: 10.1016/j.clim.2008.07.002.
14. Wolff ASB, Sarkadi AK, Maródi L, et al. Anti-cytokine autoantibodies preceding onset of autoimmune polyendocrine syndrome type i features in early childhood. J Clin Immunol. 2013;33(8):1341-1348. doi: 10.1007/s10875-013-9938-6.
15. Нефёдова Е.Д. Гнездная алопеция: клинико-генетические предикторы тяжелого течения заболевания: Дис. … канд. мед. наук. М. 2011. [Nefedova ED. Gnezdnaya alopetsiya: kliniko-geneticheskie prediktory tyazhelogo techeniya zabolevaniya [PhD dissertation]. Moscow. 2011. (In Russ.)].
16. Pforr J, Blaumeiser B, Becker T. et al. Investigation of the p.ser278arg polymorphism of the autoimmune regulator (aire) gene in alopecia areata. Tissue Antigens. 2006;68(1):58-61. doi: 10.1111/j.1399-0039.2006.00598.x.
17. Tazi-Ahnini R, Cork MJ, Gawkrodger DJ, et al. Role of the autoimmune regulator (aire) gene in alopecia areata: strong association of a potentially functional aire polymorphism with alopecia universalis. Tissue Antigens. 2002;60(6):489-495. doi: 10.1034/j.1399-0039.2002.600604.x.
18. Alzolibani AA, Zari S, Ahmed AA, Epidemiologic and genetic characteristics of alopecia areata (part 2). Acta Dermatovenerol Alp Pannonica Adriat. 2012;21(1):15-19.
19. Islam N, Leung PSC, Huntley AC, Eric Gershwin M. The autoimmune basis of alopecia areata: a comprehensive review. Autoimmun Rev. 2015;14(2):81-89. doi: 10.1016/j.autrev.2014.10.014.
20. Орлова Е.М. Генетические основы и клинические варианты аутоиммунного полигландулярного синдрома ١-го типа: Дис. … канд. мед. наук. М. 2005. [Orlova EM. Geneticheskie osnovy i klinicheskie varianty autoimmunnogo poliglandulyarnogo sindroma 1 tipa [PhD dissertaton]. Moscow 2005. (In Russ.).]
Review
For citations:
Orlova E.M., Sozaeva L.S., Karmanov M.E., Breivik L.E., Husebye E.S., Kareva M.A. The new immunological methods for diagnostics of type 1 autoimmune polyendocrine syndrome (the first experience in Russia). Problems of Endocrinology. 2015;61(5):9-13. https://doi.org/10.14341/probl20156159-13
Views:
408
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
.jpg){kind=logo}
