What is Deficiency of Interleukin-1 Receptor Antagonist (DIRA)?

DIRA is an autoinflammatory disease first reported in 2009. People with DIRA lack a protein called interleukin-1 receptor antagonist (IL-1Ra), which helps to regulate inflammation. DIRA causes life-threatening systemic inflammation with skin and bone involvement. DIRA is a genetic disorder inherited in an autosomal recessive manner, meaning that a mutation in both copies of a gene is needed to cause the disease.

DIRA is a disease with fewer than 50 patients worldwide. Cases have been identified in families originating in Puerto Rico, Newfoundland (Canada), The Netherlands, Palestine/Lebanon, Germany, Turkey, India, and Brazil. 
 

Signs of DIRA in Newborns
 

DIRA starts causing symptoms that are detected at birth or within days of birth due to inflammatory changes in the skin or bone. Common symptoms of DIRA include fetal distress, rashes that may resemble psoriasis, mouth lesions, joint swelling, painful movement, liver and spleen enlargement, and sore eyes.

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DIRA Resources
 

The groups listed below are just a few of the organizations that help connect people living with DIRA, and their families, to support and educate. While Kiniksa may provide funding to one or more of these institutions, Kiniksa neither endorses nor is responsible for the content of any of the listed websites or the services provided by these organizations. This is not a complete list of available websites.

Autoinflammatory Alliance 

EveryLife Foundation for Rare Diseases

National Organizations for Rare Disorders (NORD)

 

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References: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464919/

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