KEGG   DISEASE: Familial cold autoinflammatory syndrome
Entry
H02159                      Disease                                

Name
Familial cold autoinflammatory syndrome;
Familial cold urticaria
  Supergrp
Cryopyrin associated periodic syndrome [DS:H00282]
Description
Familial cold autoinflammatory syndrome (FCAS), also known as familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H02159  Familial cold autoinflammatory syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02159  Familial cold autoinflammatory syndrome
Gene
(FCAS1) NALP3 [HSA:114548] [KO:K12800]
(FCAS2) NALP12 [HSA:91662] [KO:K20865]
(FCAS3) PLCG2 [HSA:5336] [KO:K05859]
(FCAS4) NLRC4 [HSA:58484] [KO:K12805]
Other DBs
ICD-11: 4A60.1
ICD-10: L50.2
MeSH: D056587 C567090
OMIM: 120100 611762 614468 616115
Reference
  Authors
Hoffman HM, Wanderer AA, Broide DH
  Title
Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever.
  Journal
J Allergy Clin Immunol 108:615-20 (2001)
DOI:10.1067/mai.2001.118790
Reference
  Authors
Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD
  Title
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.
  Journal
Hum Genet 112:209-16 (2003)
DOI:10.1007/s00439-002-0860-x
Reference
  Authors
Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R, Fiore M, Delfino L, Lasiglie D, Ferraris C, Traggiai E, Di Duca M, Santamaria G, D'Osualdo A, Tosca M, Martini A, Ceccherini I, Rubartelli A, Gattorno M
  Title
Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation.
  Journal
Arthritis Rheum 63:830-9 (2011)
DOI:10.1002/art.30170
Reference
  Authors
Gandhi C, Healy C, Wanderer AA, Hoffman HM
  Title
Familial atypical cold urticaria: description of a new hereditary disease.
  Journal
J Allergy Clin Immunol 124:1245-50 (2009)
DOI:10.1016/j.jaci.2009.09.035
Reference
  Authors
Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K
  Title
An inherited mutation in NLRC4 causes autoinflammation in human and mice.
  Journal
J Exp Med 211:2385-96 (2014)
DOI:10.1084/jem.20141091
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