Familial chilblain lupus with TREX1 mutation and cerebrovascular disease

被引:0
|
作者
Nohara, Takuma [1 ]
Yanagi, Teruki [1 ,3 ]
Yabe, Ichiro [2 ]
Ota, Nakao [4 ]
Kanazawa, Nobuo [5 ]
Ujiie, Hideyuki [1 ]
Kosumi, Hideyuki [1 ]
Mai, Yosuke [1 ]
Shimizu, Hiroshi [1 ]
机构
[1] Hokkaido Univ, Fac Med, Dept Dermatol, Sapporo, Hokkaido 0608638, Japan
[2] Hokkaido Univ, Fac Med, Dept Neurol, Sapporo, Hokkaido, Japan
[3] Hokkaido Univ, Grad Sch Med, Sapporo, Hokkaido 0608638, Japan
[4] Sapporo Teishinkai Hosp, Dept Neurosurg, Sapporo, Hokkaido, Japan
[5] Wakayama Med Univ, Dept Dermatol, Wakayama, Wakayama, Japan
来源
LANCET RHEUMATOLOGY | 2020年 / 2卷 / 11期
关键词
D O I
10.1016/S2665-9913(20)30039-4
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E724 / E724
页数:1
相关论文
共 50 条
  • [1] TREX1 in Familial Chilblain Lupus
    Lee-Kirsch, M. A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2014, 134 (05) : 1484 - 1484
  • [2] A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus
    Yamashiro, Kazuo
    Tanaka, Ryota
    Li, Yuanzhe
    Mikasa, Michitaka
    Hattori, Nobutaka
    JOURNAL OF NEUROLOGY, 2013, 260 (10) : 2653 - 2655
  • [3] A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus
    Kazuo Yamashiro
    Ryota Tanaka
    Yuanzhe Li
    Michitaka Mikasa
    Nobutaka Hattori
    Journal of Neurology, 2013, 260 : 2653 - 2655
  • [4] Clinical response to JAK inhibition in patients with familial chilblain lupus and TREX1 mutation
    Zimmermann, N.
    Wolf, C.
    Schwenke, R.
    Luth, A.
    Schmidt, F.
    Engel, K.
    Lee-Kirsch, M. A.
    Gunther, C.
    EXPERIMENTAL DERMATOLOGY, 2019, 28 (03) : E26 - E27
  • [5] Familial Chilblain Lupus - A Monogenic Form of Cutaneous Lupus Erythematosus due to a Heterozygous Mutation in TREX1
    Guenther, C.
    Meurer, M.
    Stein, A.
    Viehweg, A.
    Lee-Kirsch, M. A.
    DERMATOLOGY, 2009, 219 (02) : 162 - 166
  • [6] Familial chilblain lupus - a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1
    Guenther, C.
    Meurer, M.
    Stein, A.
    Viehweg, A.
    Lee-Kirsch, M.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S50 - S50
  • [7] Familial TREX1 associated Chilblain Lupus - a monogenic Form of Lupus Erythematosus
    Guenther, C.
    Friebe, F.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2016, 14 : 11 - 12
  • [8] Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation
    Zimmermann, Nick
    Wolf, Christine
    Schwenke, Reiner
    Lueth, Anne
    Schmidt, Franziska
    Engel, Kerstin
    Lee-Kirsch, Min Ae
    Guenther, Claudia
    JAMA DERMATOLOGY, 2019, 155 (03) : 342 - 346
  • [9] Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
    Cuili Yi
    Qiyuan Li
    Jihong Xiao
    Pediatric Rheumatology, 18
  • [10] A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus
    Min Ae Lee-Kirsch
    Dipanjan Chowdhury
    Scott Harvey
    Maoliang Gong
    Lydia Senenko
    Kerstin Engel
    Christiane Pfeiffer
    Thomas Hollis
    Manfred Gahr
    Fred W. Perrino
    Judy Lieberman
    Norbert Hubner
    Journal of Molecular Medicine, 2007, 85 : 531 - 537