DIRA: "Deficiency of the interleukin-1 receptor antagonist"

Sterile multifocal osteomyelitis with periostitis and pustulosis

Definition

DIRA is counted to them periodic fever syndromes / autoinflammatory diseases

Symptoms

DIRA characterized by disease onset in neonatal (newborn) age and with sterile multifocal osteomyelitis, peri-ostitis and neutrophil pustulosis (Unlike cryopyrin-associated periodic syndromes, CAPS). Subsequent disease onset of gene mutation is also described (reference: Ulusoy E, 2015)

• Periarticular swelling caused by epiphyseal overgrowth, oral mucosal lesions and vasculitis
• Not particularly fever

Blood tests

• Marked elevated blood lowering reaction (SR) and CRP

Diagnosis

• Genetic test for mutations of IL1RN

Differential Diagnoses

• Infantile pustulosis (neonatal onset pustulosis)
• Infantile pustular psoriasis
• SAPHO (Synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome

Treatment

• DMARDs, anakinra

Medical prognosis

• Serious disease that can lead to multiple organ failure and death

Literature

• Cowen EW, 2012

More here (in Danish) (Wikipedia)

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)

• Bindevevssykdommer.no
• Vaskulitt.no