Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Deficiency of the IL-1 Receptor Antagonist (DIRA)

  • Megha Garg
  • Adriana A. de JesusEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_125-1

Synonyms

Definition

DIRA, deficiency of the IL-1 receptor antagonist, is a monogenic autosomal recessive autoinflammatory disease that presents with systemic inflammation, pustulosis, sterile osteomyelitis, and osteolytic lesions and is caused by loss-of-function mutations in IL1RN, the gene that encodes the IL-1 receptor antagonist (IL-1Ra) (MIM#612852).

Introduction and Background

At a time when whole exome sequencing was not yet available, the diagnosis of sporadic diseases required a candidate gene approach. DIRA was in fact discovered in two patients who had complete responses to empirically administered IL-1 blocking treatments with recombinant IL-1 receptor antagonist, anakinra, which strongly suggested an IL-1-mediated disease, and resulted in a candidate screen of genes in the IL-1/inflammasome pathway that eventually led to finding “the needle in the haystack” (Reddy et al. 2009; Aksentijevich...

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References

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Copyright information

© This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply 2018

Authors and Affiliations

  1. 1.Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID)National Institutes of Health (NIH)BethesdaUSA

Section editors and affiliations

  • Raphaela Goldbach-Mansky
    • 1
  1. 1.NIAID, Translational Autoinflammatory Disease StudiesNational Institutes of Health Clinical CenterBethesdaUSA