Familial cold autoinflammatory syndrome

Also known as: FCAS

Cold-induced urticaria and fever.

Medical specialty: Immunology
Subspecialty: Immunology / Autoinflammatory disorders
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: NLRP12, NLRP3

Etiology & mechanism

NLRP3 or NLRP12 mutation.

Gene(s) involved (2)

NLRP12NLRP3

Symptoms & signs (4)

arthralgiacold-induced rashconjunctivitisfever

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.