| H00291 | |
| H番号 | H00291 |
| 名称 | 家族性凍傷状狼瘡 |
| 概要 | 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. |
| カテゴリ | 免疫系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (CHBL1) TREX1 [HSA:11277] [KO:K10790] (CHBL2) SAMHD1 [HSA:25939] [KO:K22544] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | MeSH: C535924 OMIM: 610448 614415 |
| 文献 | PMID:18543054 著者 Hedrich CM, Fiebig B, Hauck FH, Sallmann S, Hahn G, Pfeiffer C, Heubner G, Lee-Kirsch MA, Gahr M タイトル Chilblain lupus erythematosus--a review of literature. 雑誌 Clin Rheumatol 27:949-54 (2008) DOI:10.1007/s10067-008-0942-9 PMID:17440703 (TREX1) 著者 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 タイトル A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 雑誌 J Mol Med 85:531-7 (2007) DOI:10.1007/s00109-007-0199-9 PMID:19478477 (TREX1) 著者 Gunther C, Meurer M, Stein A, Viehweg A, Lee-Kirsch MA タイトル Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. 雑誌 Dermatology 219:162-6 (2009) DOI:10.1159/000222430 PMID:21204240 (SAMHD1) 著者 Ravenscroft JC, Suri M, Rice GI, Szynkiewicz M, Crow YJ タイトル Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 雑誌 Am J Med Genet A 155A:235-7 (2011) DOI:10.1002/ajmg.a.33778 |