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Deficiency of IL-1 receptor antagonist

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

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

Ligands

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]