Top ▲

Familial cold autoinflammatory syndrome 1; FCAS1

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

Targets

NLRP3

Ligands

Key to terms and symbols Click ligand name to view ligand summary Click column headers to sort
Ligand References Clinical and Disease comments
rilonacept
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EMA approval has been withdrawn.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

References

Show »

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]