Type I Interferonopathies: A Novel Set of Inborn Errors of Immunity

Ann N Y Acad Sci. 2011 Nov;1238:91-8. doi: 10.1111/j.1749-6632.2011.06220.x.

Abstract

The concept of grouping Mendelian disorders associated with an upregulation of type I interferon is not currently recognized in the medical literature. Here, we argue that such a concept has scientific validity and clinical utility. Specifically, we discuss a group of conditions, including Aicardi-Goutières syndrome, spondyloenchondrodysplasia, and cases of systemic lupus erythematosus with complement deficiency, in which an upregulation of type I interferons is apparently central to their pathogenesis. We believe that these diseases can usefully be considered to represent a novel set of inborn errors of immunity, and that the recognition of such diseases as type I interferonopathies will have significance in the development and use of targeted therapies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology
  • Autoimmune Diseases of the Nervous System / genetics
  • Autoimmune Diseases of the Nervous System / immunology
  • Complement System Proteins / deficiency
  • Humans
  • Immunity
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology*
  • Immunologic Deficiency Syndromes / therapy
  • Interferon Type I / genetics*
  • Interferon Type I / immunology
  • Interferon Type I / metabolism
  • Lupus Erythematosus, Systemic / genetics
  • Lupus Erythematosus, Systemic / immunology
  • Nervous System Malformations / genetics
  • Nervous System Malformations / immunology
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / immunology
  • Up-Regulation

Substances

  • Interferon Type I
  • Complement System Proteins

Supplementary concepts

  • Aicardi-Goutieres syndrome
  • Spondyloenchondrodysplasia