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Familial cold autoinflammatory syndrome 1; FCAS1

Disease ID:1025
Name:Familial cold autoinflammatory syndrome 1; FCAS1
Associated with:1 target
2 immuno-relevant ligands
Familial cold urticaria
Database Links
OMIM: 120100
Orphanet: ORPHA47045




Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
Immuno Disease Comments: Approved drug for FCAS1.
Clinical Use: Currently used in the treatment of cryopyrin-associated periodic syndrome (CAPS). Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells syndrome; and CINCA syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.

EMA approval has been withdrawn. | View clinical data
canakinumab 1
Immuno Disease Comments: An anti-IL-1β therapeutic approved for FCAS1.
Clinical Use: Used to treat rheumatic diseases; familial cold autoinflammatory syndrome (FCAS) [1] and Muckle-Wells syndrome (MWS) in patients >4 years of age, and systemic juvenile idiopathic arthritis (sJIA) in patients >2 years old [2]. | View clinical data


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1. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN et al.. (2009) Use of canakinumab in the cryopyrin-associated periodic syndrome. N. Engl. J. Med., 360 (23): 2416-25. [PMID:19494217]

2. Ruperto N, Brunner HI, Quartier P, Constantin T, Wulffraat N, Horneff G, Brik R, McCann L, Kasapcopur O, Rutkowska-Sak L et al.. (2012) Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N. Engl. J. Med., 367 (25): 2396-406. [PMID:23252526]