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Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay

  • Maria del Pilar Larosa , Rachel Mackenzie , Peter Burne , Silvia Garelli , Susi Barollo , Stefano Masiero , Beatrice Rubin , Shu Chen , Jadwiga Furmaniak , Corrado Betterle and Bernard Rees Smith EMAIL logo
Published/Copyright: January 18, 2017
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 55 Issue 7

Abstract

Background:

Measurements of autoantibodies to interferon-ω (IFN-ω) in patients with autoimmune polyglandular syndrome type 1 (APS-1) were performed using a new immunoprecipitation assay (IPA) based on 125I-labeled IFN-ω.

Methods:

We have developed and validated a new IPA based on 125I-labeled IFN-ω. Sera from 78 patients (aged 3–78 years) with clinically diagnosed APS-1, 35 first degree relatives, 323 patients with other adrenal or non-adrenal autoimmune diseases and 84 healthy blood donors were used in the study. In addition, clinical features and autoimmune regulator (AIRE) genotype for the APS-1 patients were analyzed.

Results:

Sixty-six (84.6%) of 78 APS-1 patients were positive for IFN-ω Ab using 125I-labeled IFN-ω IPA. IFN-ω Ab was the most prevalent of the six different autoantibodies tested in this group of APS-1 patients. All 66 IFN-ω Ab-positive APS-1 patients had AIRE mutations and 7 IFN-ω Ab-negative patients had no detectable AIRE mutations, whereas 3 (3.8%) patients were discrepant for IFN-ω Ab positivity and AIRE mutation results. Out of autoimmune controls studied, two patients were positive for IFN-ω Ab. Positivity and levels of IFN-ω Ab in the APS-1 patients studied were similar irrespective of patient’s clinical phenotype and AIRE genotype. Furthermore, IFN-ω Ab levels did not change over time (up to 36 years of disease duration) in 8 APS-1 patients studied.

Conclusions:

We have developed a novel, highly sensitive and specific assay for measurement of IFN-ω Ab. It provides a simple and convenient method for the assessment of patients with APS-1 and selecting patients suspected of having APS-1 for AIRE gene analysis.

Keywords: AIRE gene; APS-1; autoimmunity; interferon-ω Ab

Acknowledgments

Carol James assisted with the preparation of the manuscript.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: The work was funded by RSR Ltd. This study was supported in part by a grant from the European Union Seventh Framework Program, the Euradrenal project: Pathophysiology and Natural Course of Autoimmune Adrenal Failure in Europe. Grant Agreement No. 2008-201167; and from Grant ex 60% of University of Padova.

  3. Employment or leadership: M.d.P.L., R.M., P.B., S.C., J.F. and B.R.S. are employees of RSR Ltd. RSR Ltd. is a developer of medical diagnostics including kits for measuring 21-OH antibodies.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-7-11
Accepted: 2016-11-22
Published Online: 2017-1-18
Published in Print: 2017-6-27

©2017 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Editorials
  3. Opportunities and drawbacks of nonstandard body fluid analysis
  4. How I first met Dr. Morton K. Schwartz
  5. Reviews
  6. Measurement of thyroglobulin, calcitonin, and PTH in FNA washout fluids
  7. Quality control materials for pharmacogenomic testing in the clinic
  8. Modulating thrombotic diathesis in hereditary thrombophilia and antiphospholipid antibody syndrome: a role for circulating microparticles?
  9. Opinion Papers
  10. Advances in laboratory diagnosis of hereditary spherocytosis
  11. Analytical performance specifications for external quality assessment – definitions and descriptions
  12. Genetics and Molecular Diagnostics
  13. Differences between quantification of genotype 3 hepatitis C virus RNA by Versions 1.0 and 2.0 of the COBAS AmpliPrep/COBAS TaqMan HCV Test
  14. General Clinical Chemistry and Laboratory Medicine
  15. Estimating the intra- and inter-individual imprecision of manual pipetting
  16. Effect of multiple freeze-thaw cycles on selected biochemical serum components
  17. The effect of storage temperature fluctuations on the stability of biochemical analytes in blood serum
  18. Comparison of ex vivo stability of copeptin and vasopressin
  19. Physiologic changes of urinary proteome by caffeine and excessive water intake
  20. Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay
  21. Reference Values and Biological Variations
  22. Within-day biological variation and hour-to-hour reference change values for hematological parameters
  23. Relationship between anti-Müllerian hormone and antral follicle count across the menstrual cycle using the Beckman Coulter Access assay in comparison with Gen II manual assay
  24. Cardiovascular Diseases
  25. Low-grade inflammation and tryptophan-kynurenine pathway activation are associated with adverse cardiac remodeling in primary hyperparathyroidism: the EPATH trial
  26. Infectious Diseases
  27. Comparison between procalcitonin and C-reactive protein in predicting bacteremias and confounding factors: a case-control study
  28. Monitoring of procalcitonin but not interleukin-6 is useful for the early prediction of anastomotic leakage after colorectal surgery
  29. Activation of the tryptophan/serotonin pathway is associated with severity and predicts outcomes in pneumonia: results of a long-term cohort study
  30. Letters to the Editor
  31. Incidental findings of monoclonal proteins from carbohydrate-deficient transferrin analysis using capillary electrophoresis
  32. IgD-λ myeloma with extensive free light-chain excretion: a diagnostic pitfall in the identification of monoclonal gammopathies
  33. 25-Hydroxyvitamin D threshold values should be age-specific
  34. Effect of dabigatran treatment at therapeutic levels on point-of-care international normalized ratio (INR)
  35. Alkaline phosphatase activity – pH impact on the measurement result
  36. Cyst hydatid and cancer: the myth continues
  37. Role of activated platelets in severe acne scarring and adaptive immunity activation
  38. Towards a random-access LC-MS/MS model for busulfan analysis
https://doi.org/10.1515/cclm-2016-0615
Keywords for this article
AIRE gene; APS-1; autoimmunity; interferon-ω Ab

Articles in the same Issue

  1. Frontmatter
  2. Editorials
  3. Opportunities and drawbacks of nonstandard body fluid analysis
  4. How I first met Dr. Morton K. Schwartz
  5. Reviews
  6. Measurement of thyroglobulin, calcitonin, and PTH in FNA washout fluids
  7. Quality control materials for pharmacogenomic testing in the clinic
  8. Modulating thrombotic diathesis in hereditary thrombophilia and antiphospholipid antibody syndrome: a role for circulating microparticles?
  9. Opinion Papers
  10. Advances in laboratory diagnosis of hereditary spherocytosis
  11. Analytical performance specifications for external quality assessment – definitions and descriptions
  12. Genetics and Molecular Diagnostics
  13. Differences between quantification of genotype 3 hepatitis C virus RNA by Versions 1.0 and 2.0 of the COBAS AmpliPrep/COBAS TaqMan HCV Test
  14. General Clinical Chemistry and Laboratory Medicine
  15. Estimating the intra- and inter-individual imprecision of manual pipetting
  16. Effect of multiple freeze-thaw cycles on selected biochemical serum components
  17. The effect of storage temperature fluctuations on the stability of biochemical analytes in blood serum
  18. Comparison of ex vivo stability of copeptin and vasopressin
  19. Physiologic changes of urinary proteome by caffeine and excessive water intake
  20. Assessment of autoantibodies to interferon-ω in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay
  21. Reference Values and Biological Variations
  22. Within-day biological variation and hour-to-hour reference change values for hematological parameters
  23. Relationship between anti-Müllerian hormone and antral follicle count across the menstrual cycle using the Beckman Coulter Access assay in comparison with Gen II manual assay
  24. Cardiovascular Diseases
  25. Low-grade inflammation and tryptophan-kynurenine pathway activation are associated with adverse cardiac remodeling in primary hyperparathyroidism: the EPATH trial
  26. Infectious Diseases
  27. Comparison between procalcitonin and C-reactive protein in predicting bacteremias and confounding factors: a case-control study
  28. Monitoring of procalcitonin but not interleukin-6 is useful for the early prediction of anastomotic leakage after colorectal surgery
  29. Activation of the tryptophan/serotonin pathway is associated with severity and predicts outcomes in pneumonia: results of a long-term cohort study
  30. Letters to the Editor
  31. Incidental findings of monoclonal proteins from carbohydrate-deficient transferrin analysis using capillary electrophoresis
  32. IgD-λ myeloma with extensive free light-chain excretion: a diagnostic pitfall in the identification of monoclonal gammopathies
  33. 25-Hydroxyvitamin D threshold values should be age-specific
  34. Effect of dabigatran treatment at therapeutic levels on point-of-care international normalized ratio (INR)
  35. Alkaline phosphatase activity – pH impact on the measurement result
  36. Cyst hydatid and cancer: the myth continues
  37. Role of activated platelets in severe acne scarring and adaptive immunity activation
  38. Towards a random-access LC-MS/MS model for busulfan analysis
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