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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 mucosa 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

Medical prognosis

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

Literature

More here (Wikipedia)

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)


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