KEGG   DISEASE: Familial chilblain lupus (FCL)
Entry
H00291                      Disease                                

Name
Familial chilblain lupus (FCL);
Chilblain lupus erythematosus (CHLE)
Description
Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus have been reported. First symptoms manifest in early childhood, developing hypergammaglobulinemia and rheumatoid factor antibody production. In FCL, missense mutations in TREX1 that decrease its exonuclease activity were described. The failure of DNA degradation can result in aberrant immune response.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H00291  Familial chilblain lupus (FCL)
Pathway
hsa04623  Cytosolic DNA-sensing pathway
Gene
TREX1 [HSA:11277] [KO:K10790]
Env factor
cold and wet exposure
Other DBs
MeSH: C535924
OMIM: 610448
Reference
  Authors
Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M
  Title
Chilblain lupus erythematosus--a review of literature.
  Journal
Clin Rheumatol 27:949-54 (2008)
DOI:10.1007/s10067-008-0942-9
Reference
  Authors
Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP
  Title
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
  Journal
Cell Cycle 7:1718-25 (2008)
DOI:10.4161/cc.7.12.6162
Reference
  Authors
Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ
  Title
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.
  Journal
Am J Hum Genet 80:811-5 (2007)
DOI:10.1086/513443
Reference
  Authors
Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N
  Title
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
  Journal
J Mol Med 85:531-7 (2007)
DOI:10.1007/s00109-007-0199-9
Reference
  Authors
Gunther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA
  Title
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
  Journal
Dermatology 219:162-6 (2009)
DOI:10.1159/000222430
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