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.
More information can be found in the help pages.
✖| Disease ID: | 1243 | |
| Name: | Deficiency of IL-1 receptor antagonist | |
| Associated with: | 0 target | |
| 1 immuno-relevant ligand |  |
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| 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 |
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OMIM:
612852 Orphanet: ORPHA210115 |
Targets
GtoPdb Disease Summaries - Targets
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Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
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.
✖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
Click the arrow in the final column to expand comments
- 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.
✖| Key to terms and symbols | Click ligand name to view ligand summary | Click column headers to sort | |||||||||||||||
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References
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]
