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Deficiency of IL-1 receptor antagonist

GtoPdb Disease Summaries

This section gives an overview of the disease, and where available shows the following:

  • Synonyms: Shows known synonyms for the disease.
  • Description: Gives a basic description/definition of the disease.
  • Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
  • Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
  • Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.

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Disease ID:1243
Name:Deficiency of IL-1 receptor antagonist
Associated with:0 target
1 immuno-relevant ligand
Synonyms
DIRA | Interleukin-1 receptor antagonist deficiency | OMPP | sterile multifocal osteomyelitis with periostitis and pustulosis
Description
DIRA is a very rare autosomal recessive auto-inflammatory condition caused by homozygous mutation in the IL1RN gene that results in IL-1RA deficiency. It presents neonatally or in infancy with severe skin (erythema, cutaneous pustulosis, plaque formation) and bone inflammation that cause intense, chronic pain. DIRA is responsive to IL-1 blocking therapies such as anakinra, rilonacept, and canakinumab. See Aksentijevich et al. (2009) PMID: 19494218 and Reddy et al. (2009) PMID: 19494219 for case studies and reports of the identification of the genetic mutations(s) that cause DIRA.
Database Links
OMIM: 612852
Orphanet: ORPHA210115

Targets

GtoPdb Disease Summaries - Targets

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Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.

More information can be found in the help pages.

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Key to terms and symbols

No target related data available for Deficiency of IL-1 receptor antagonist

Ligands

GtoPdb Disease Summaries - Ligands

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  • Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
  • Immuno: Immuno icon indicates the ligand is immuno-relevant

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  • Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
  • Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
  • Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.

More information can be found in the help pages.

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Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
IL-1 receptor antagonist 1-2
Immuno Disease Comments: DIRA is caused by mutations in the IL1RN gene that cause loss of function of IL-1RA protein. The condition is responsive to IL-1 blocking therapies such as anakinra, rilonacept, and canakinumab.

References

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1. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH et al.. (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med, 360 (23): 2426-37. [PMID:19494218]

2. Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J. (2009) An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med, 360 (23): 2438-44. [PMID:19494219]