Deficiency of interleukin-1 receptor antagonist

Other Names: DIRA; Interleukin 1 receptor antagonist deficiency

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

Cause

Those affected with DIRA have inherited (via autosomal recessive manner) mutations in IL1RN, a gene that encodes a protein known as interleukin 1 receptor antagonist, The cytogenetic location of IL1RN is 2q14.1, while its 2:113,099,364-113,134,015 are the genomic coordinates.

Signs and symptoms

• Joint swelling
• Hepatomegaly
• Osteomyelitis
• Fused cervical vertebrae
• Interstitial pulmonary abnormality
• Stomatitis
• Mouth ulcers
• Pustulosis or pustular psoriasis
• Cerebral vasculitis
• Joint pain
• Splenomegaly

Diagnosis

Those affected with deficiency of the interleukin-1–receptor antagonist can have diagnosis achieved via noting an increase of erythrocyte sedimentation rate, as well as the following:

• Genetic test
• Radiological findings
• Clinical findings

Treatment

In terms of treatment a 2013 review indicates that colchicine can be used for DIRA. Additionally there are several other management options such as anakinra, which blocks naturally occurring IL-1, this according to a 2016 pediatric textbook.

NIH genetic and rare disease info

• NIH info on Deficiency of interleukin-1 receptor antagonist

Deficiency of interleukin-1 receptor antagonist is a rare disease.