Abstract
The diagnosis of autoimmune polyglandular syndrome (APS) types 1/2 is difficult due to their rarity and nonspecific clinical manifestations. APS-1 development can be identified with assays for autoantibodies against cytokines, and APS-2 development with organ-specific antibodies. In this study, a microarray-based multiplex assay was proposed for simultaneous detection of both organ-specific (anti-21-OH, anti-GAD-65, anti-IA2, anti-ICA, anti-TG, and anti-TPO) and APS-1-specific (anti-IFN-ω, anti-IFN-α-2a, and anti-IL-22) autoantibodies. Herein, 206 serum samples from adult patients with APS-1, APS-2, isolated autoimmune endocrine pathologies or non-autoimmune endocrine pathologies and from healthy donors were analyzed. The prevalence of autoantibodies differed among the groups of healthy donors and patients with non-, mono- and multi-endocrine diseases. APS-1 patients were characterized by the presence of at least two specific autoantibodies (specificity 99.5%, sensitivity 100%). Furthermore, in 16 of the 18 patients, the APS-1 assay revealed triple positivity for autoantibodies against IFN-ω, IFN-α-2a and IL-22 (specificity 100%, sensitivity 88.9%). No anti-cytokine autoantibodies were found in the group of patients with non-APS-1 polyendocrine autoimmunity. The accuracy of the microarray-based assay compared to ELISA for organ-specific autoantibodies was 88.8–97.6%. This multiplex assay can be part of the strategy for diagnosing and predicting the development of APS.
Highlights
Autoimmune endocrinopathies can be grouped within autoimmune polyglandular syndromes (APSs)
Diluted serum samples were applied to the microarray, and autoantibodies bound to immobilized autoantigens were detected using anti-species fluorescently labeled antibodies
We found that an increase in the threshold level for autoantibodies against IFN-ω, IFN-α-2a and interleukin 22 (IL-22) to In /Iref ≥ 5.0 allowed the exclusion of false positive results without loss of sensitivity
Summary
Autoimmune endocrinopathies can be grouped within autoimmune polyglandular syndromes (APSs). APSs are classified as rare monogenic APS-1 and more common polygenic types. Since APS types 2, 3 and 4 are characterized by a similar mechanism of development of the disease, a polygenic type of inheritance [1], the manifestation of endocrinopathies in most cases in adulthood, and the variability of combinations of syndromic components over time, most experts identify a single type of APS (APS type 2) [2]. The classic triad components of APS-1 are chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and Addison’s disease (AD) [2]. The classic diagnostic dyad covers only a small fraction of new cases. The complete picture of the disease appears much later; 99% of 40-year-old patients have a diagnostic dyad, and
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