Dec 2, 2011

Type I interferonopathies: a novel set of inborn errors of immunity

Annals of the New York Academy of Sciences
Yanick J Crow


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.

  • References55
  • Citations112
  • References55
  • Citations112


Mentioned in this Paper

Inborn Errors of Metabolism
Pathogenic Aspects
Immune Disorders, Nervous System
Immunologic Deficiency Syndromes
Hemolytic Complement
Complement Factor I (C3 Inactivator) Deficiency
Atypical Mycobacteriosis, Familial
Autoimmune Diseases
Spondyloepiphyseal Dysplasia Tarda, X-Linked

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