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)
Related
pathway
hsa04623  Cytosolic DNA-sensing pathway
Gene
(CHBL1) TREX1 [HSA:11277] [KO:K10790]
(CHBL2) SAMHD1 [HSA:25939] [KO:K22544]
Other DBs
MeSH: C535924
OMIM: 610448 614415
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
PMID:17440703 (TREX1)
  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
PMID:19478477 (TREX1)
  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
Reference
PMID:21204240 (SAMHD1)
  Authors
Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ
  Title
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
  Journal
Am J Med Genet A 155A:235-7 (2011)
DOI:10.1002/ajmg.a.33778
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