KEGG DISEASE: Familial chilblain lupus (FCL)

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

Pathway-based classification of diseases [BR:br08402]
Immune system
nt06520 CGAS-STING signaling
H00291 Familial chilblain lupus (FCL)

Pathway

Cytosolic DNA-sensing pathway

Network

nt06520 CGAS-STING signaling

Gene

(CHBL1) TREX1 [HSA:11277] [KO:K10790]
(CHBL2) SAMHD1 [HSA:25939] [KO:K22544]

Other DBs

MeSH:

OMIM:

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

LinkDB

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