Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

Blood. 2008 Oct 1;112(7):2657-66. doi: 10.1182/blood-2008-03-144634. Epub 2008 Jul 7.

Abstract

Neutralizing autoantibodies to type I, but not type II, interferons (IFNs) are found at high titers in almost every patient with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), a disease caused by AIRE gene mutations that lead to defects in thymic T-cell selection. Combining genome-wide expression array with real time RT-PCR assays, we here demonstrate that antibodies against IFN-alpha cause highly significant down-regulation of interferon-stimulated gene expression in cells from APECED patients' blood by blocking their highly dilute endogenous IFNs. This down-regulation was lost progressively as these APECED cells matured in cultures without neutralizing autoantibodies. Most interestingly, a rare APECED patient with autoantibodies to IFN-omega but not IFN-alpha showed a marked increase in expression of the same interferon-stimulated genes. We also report unexpected increases in serum CXCL10 levels in APECED. Our results argue that the breakdown of tolerance to IFNs in AIRE deficiency is associated with impaired responses to them in thymus, and highlight APECED as another autoimmune disease with associated dysregulation of IFN activity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • AIRE Protein
  • Adolescent
  • Adult
  • Autoantibodies / immunology*
  • Blood Cells / metabolism
  • Case-Control Studies
  • Cell Line
  • Chemokine CXCL10 / blood
  • Dendritic Cells / immunology
  • Down-Regulation / genetics*
  • Female
  • Humans
  • Interferon Type I / immunology
  • Interferons / immunology*
  • Male
  • Middle Aged
  • Models, Immunological
  • Monocytes / immunology
  • Neutralization Tests
  • Oligonucleotide Array Sequence Analysis
  • Phosphorylation
  • Polyendocrinopathies, Autoimmune / blood
  • Polyendocrinopathies, Autoimmune / genetics
  • STAT1 Transcription Factor / metabolism
  • Transcription Factors / deficiency*
  • Transcription Factors / immunology

Substances

  • Autoantibodies
  • Chemokine CXCL10
  • Interferon Type I
  • STAT1 Transcription Factor
  • Transcription Factors
  • Interferons