| H00291 | |
| H number | H00291 |
| 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 |
| Network | - |
| Gene | (CHBL1) TREX1 [HSA:11277] [KO:K10790] (CHBL2) SAMHD1 [HSA:25939] [KO:K22544] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | MeSH: C535924 OMIM: 610448 614415 |
| Reference | PMID:18543054 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 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 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 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 |