KEGG DISEASE: Familial cold autoinflammatory syndrome

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 in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02159  Familial cold autoinflammatory syndrome
Pathway-based classification of diseases [BR:br08402]
Immune system
  nt06521  NLR signaling
   H02159  Familial cold autoinflammatory syndrome
  nt06537  TCR/BCR signaling
   H02159  Familial cold autoinflammatory syndrome

Pathway

hsa04621

NOD-like receptor signaling pathway

hsa04662

B cell receptor signaling pathway

Network

nt06521 NLR signaling
nt06537 TCR/BCR signaling

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

PMID:11590390

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

PMID:19910034

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

PMID:12522564 (FCAS1)

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

PMID:21360512 (FCAS2)

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

PMID:25385754 (FCAS4)

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

Reference

PMID:22236196 (FCAS3)

Authors

Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, Subramanian N, Bunney TD, Baxendale RW, Martins MS, Romberg N, Komarow H, Aksentijevich I, Kim HS, Ho J, Cruse G, Jung MY, Gilfillan AM, Metcalfe DD, Nelson C, O'Brien M, Wisch L, Stone K, Douek DC, Gandhi C, Wanderer AA, Lee H, Nelson SF, Shianna KV, Cirulli ET, Goldstein DB, Long EO, Moir S, Meffre E, Holland SM, Kastner DL, Katan M, Hoffman HM, Milner JD

Title

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

Journal

N Engl J Med 366:330-8 (2012)
DOI:10.1056/NEJMoa1102140

LinkDB

» Japanese version

DISEASE: NLRC4 inflammasomopathy

Entry

H01748                      Disease

Name

NLRC4 inflammasomopathy

Subgroup

Autoinflammation with infantile enterocolitis (AIFEC)

Supergrp

Inherited autoinflammatory disease [DS:H02599]

Description

The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC). AIFEC is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation. It was shown that the disease is caused by gain-of-function mutations in NLRC4. NLRC4 protein is known to directly assemble inflammasomes that activate IL-1beta and IL-18.