Deficiency of the interleukin-1–receptor antagonist
- Deficiency of the interleukin-1–receptor antagonist
-
| Deficiency of the interleukin-1–receptor antagonist |
| Classification and external resources |
| OMIM |
612852 |
Deficiency of the interleukin-1–receptor antagonist (DIRA) is a rare, autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.
The mutations result in an abnormal protein that is not secreted, exposing the cells to unopposed interleukin 1 activity. This results in sterile multifocal osteomyelitis (bone inflammation in multiple places), periostitis (inflammation of the membrane surrounding the bones), and pustulosis (due to skin inflammation) from birth.
References
See also
Categories:
- Autoinflammatory syndromes
- Rare diseases
- Disease stubs
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