Conditions / Immune

CINCA Syndrome

info · Immune · ICD-10: E85.0

An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.

Signs and symptoms

  • Anemia
  • Lymphadenopathy
  • Elevated erythrocyte sedimentation rate
  • Elevated circulating C-reactive protein concentration
  • Skin rash
  • Hepatosplenomegaly
  • Increased total leukocyte count
  • Recurrent fever
  • Frontal bossing
  • Papilledema

Also known as: IOMID syndrome; NOMID syndrome; Prieur-Griscelli syndrome; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome