Deficiency of interleukin-1 receptor antagonist

Deficiency of interleukin-1 receptor antagonist is an exceedingly rare, life-threatening monogenic autoinflammatory disorder caused by biallelic loss-of-function mutations or deletions in the *IL1RN* gene Hallmarks include sterile multifocal osteomyelitis, periostitis, skeletal dysplasias, generalized pustular dermatitis, and marked elevation of acute-phase reactants, frequently occurring in the absence of persistent high-grade fevers

Deficiency of interleukin-1 receptor antagonist is an exceedingly rare, life-threatening monogenic autoinflammatory disorder caused by biallelic loss-of-function mutations or deletions in the *IL1RN* gene This genetic defect results in the absence of functional interleukin-1 receptor antagonist protein, leading to unopposed interleukin-1 receptor signaling and uninhibited systemic inflammation Hallmarks include sterile multifocal osteomyelitis, periostitis, skeletal dysplasias, generalized pustu...

This genetic defect results in the absence of functional interleukin-1 receptor antagonist protein, leading to unopposed interleukin-1 receptor signaling and uninhibited systemic inflammation Typically presenting in early infancy or within the neonatal period, the condition primarily targets the skeletal and integumentary systems

Typically presenting in early infancy or within the neonatal period, the condition primarily targets the skeletal and integumentary systems