Conditions / Genetic

familial cold autoinflammatory syndrome 1

info · Genetic · ICD-10: L50.2

A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.

Signs and symptoms

  • Urticaria
  • Elevated circulating C-reactive protein concentration
  • Arthralgia
  • Conjunctivitis
  • Aphthous ulcer
  • Fever
  • Uveitis
  • Arthritis
  • Chills
  • Cold urticaria

Also known as: FCAS1