Diagnostic Accuracy of Methods for Detection of Antibodies against Type I Interferons in Patients with Endocrine Disorders

Abstract

Autoantibodies against type 1 interferons (IFN-I) are a highly specific marker for type 1 autoimmune polyglandular syndrome (APS-1). Moreover, determination of antibodies to omega-interferon (IFN-ω) and alpha2-interferon (IFN-α2) allows a short-term diagnosis in patients with isolated and atypical forms of APS-1. In this study, a comparison of three different methods, namely multiplex microarray-based, cell-based and enzyme-linked immunosorbent assays for detection of antibodies against omega-interferon and alpha2-interferon, was carried out. A total of 206 serum samples from adult patients with APS-1, APS-2, isolated autoimmune endocrine pathologies or non-autoimmune endocrine disorders, and healthy individuals were analyzed. In the APS-1 patient cohort (n = 18), there was good agreement between the results of anti-IFN-I antibody tests performed by three methods, with 100% specificity and sensitivity for microarray-based assay. Although only the cell-based assay can determine the neutralizing activity of autoantibodies, the microarray-based assay can serve as a highly specific and sensitive screening test to identify anti-IFN-I antibody positive patients.

Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1—A Case Study and Literature Review

“…If there is a family history of this syndrome, only one triad component is necessary for the diagnosis. Essential diagnostic tools for APS-1 comprise genetic studies to identify the carriers of pathogenic AIRE mutations and antiinterferon antibodies [13].…”

Autoimmune Polyendocrine Syndromes in the Pediatric Age

“…In addition, autoantibodies against type 1 interferons, especially antibodies to omega-interferon (IFN-ω-Abs) and alpha2-interferon (IFN-α2-Abs), are highly specific markers for APS-1 [ 18 ]. Assays for the measurement of IFN-ω-Abs and IFN-α2-Abs may be used as a convenient and rapid method for the selection of patients for AIRE gene analysis, ruling out the diagnosis in those who do not have IFN-ω-Abs and IFN-α2-Abs [ 19 , 20 ].…”

Trio-Based Exome Sequencing and High-Resolution HLA Typing in Families of Patients with Autoimmune Adrenal Insufficiency and Autoimmune Polyglandular Syndrome

“…Furthermore, antibodies to gliadin and tissue transglutaminase were not detected. None of the patients had antibodies to type I interferons and interleukin-22 by microarray analysis, which made it possible to exclude the diagnosis of APS-1, for which these markers are highly specific [20,21]. The latter was especially important for Patient C, who, in addition to AAI, was diagnosed with esophageal candidiasis.…”

“…Registration of fluorescent images of microarrays and calculation of fluorescent signals were performed using a microarray analyzer and software developed at the Engelhardt Institute of Molecular Biology, Moscow. Interpretation of the results of analysis on a microarray with the determination of the presence/absence of autoantibodies in blood serum were performed as described previously [20,21].…”