Conditions / Immune
interleukin-1 receptor antagonist deficiency
info · Immune
An autoinflammatory disease characterized by joint swelling and pain, pustular rash, oral mucosal lesions, and fetal distress that has_material_basis_in homozygous mutation in the IL1RN gene on chromosome 2q14.
Signs and symptoms
- Failure to thrive in infancy
- Pustule
- Motor delay
- Increased total neutrophil count
- Osteopenia
- Abscess
- Osteomyelitis
- Elevated erythrocyte sedimentation rate
- Joint swelling
- Epidermal acanthosis
Also known as: Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency; Sterile multifocal osteomyelitis with periostitis and pustulosis; chronic recurrent multifocal osteomyelitis-2 with periostitis and pustulosis