Conditions / Genetic
familial cold autoinflammatory syndrome 2
info · Genetic
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.
Signs and symptoms
- Elevated erythrocyte sedimentation rate
- Elevated circulating C-reactive protein concentration
- Recurrent fever
- Increased total leukocyte count
- Arthralgia
- Urticaria
- Headache
- Myalgia
- Lower limb pain
- Sensorineural hearing impairment
Also known as: FCAS2; NLRP12-associated hereditary periodic fever syndrome