Deficiency of the IL-1 receptor antagonist (DIRA)

This is a very rare autosomal recessive disease which was first described in 2009 in a handful of families of various ethnic origins including Northern Europe and Central America. Symptoms begin shortly after birth and include rash, joint swelling, pain and bone and joint pains and swelling. As in all the inherited fever syndromes there are raised levels of inflammatory markers.

Treatment with daily injections of anakinra, which blocks the IL-1 cytokine has had good results in all patients treated so far.

The side effects of anakinra include:

  • stinging
  • skin redness at the injection site, in some people
  • increased risk of infection.

In general the infections reported have been mild but all patients should be screened for tuberculosis and asked about a history of other infections before starting such drugs.