Aicardi-Goutieres syndrome due to SAMHD1 mutation with toxic epidermal necrolysis-like lesions

被引:0
|
作者
Sathishkumar, D. [1 ]
Moss, C. [1 ]
Al-Abadi, E. [2 ]
Nicklaus-Wollenteit, I. [3 ]
Ogboli, M. [1 ]
Gach, J. E. [1 ]
机构
[1] Birmingham Childrens Hosp NHS Fdn Trust, Dept Dermatol, Birmingham, W Midlands, England
[2] Birmingham Childrens Hosp NHS Fdn Trust, Dept Rheumatol, Birmingham, W Midlands, England
[3] Birmingham Childrens Hosp NHS Fdn Trust, Dept Pathol, Birmingham, W Midlands, England
关键词
D O I
暂无
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
12
引用
收藏
页码:E29 / E29
页数:1
相关论文
共 50 条
  • [21] Aicardi-Goutieres Syndrome Gene and HIV-1 Restriction Factor SAMHD1 Is a dGTP-regulated Deoxynucleotide Triphosphohydrolas
    Powell, Rebecca D.
    Holland, Paul J.
    Hollis, Thomas
    Perrino, Fred W.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (51) : 43596 - 43600
  • [22] Genome-wide homozygosity mapping and next generation sequencing indentifies SAMHD1 mutations in a novel variant of Aicardi-Goutieres syndrome
    du Moulin, M.
    Thiele, H.
    Barczyk, K.
    George, C.
    Frosch, M.
    Schwindt, W.
    Roth, J.
    Nuernberg, P.
    Rutsch, F.
    EUROPEAN JOURNAL OF PEDIATRICS, 2010, 169 (03) : 380 - 381
  • [23] Elimination of Aicardi-Goutieres syndrome protein SAMHD1 activates cellular innate immunity and suppresses SARS-CoV-2 replication
    Oo, Adrian
    Zandi, Keivan
    Shepard, Caitlin
    Bassit, Leda C.
    Musall, Katie
    Cho, Young-Jae
    Kim, Dong-Hyun
    Schinazi, Raymond F.
    Kim, Baek
    Goh, Shu Ling
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2022, 298 (03)
  • [24] Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutieres Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression
    Thiele, Holger
    du Moulin, Marcel
    Barczyk, Katarzyna
    George, Christel
    Schwindt, Wolfram
    Nuernberg, Gudrun
    Frosch, Michael
    Kurlemann, Gerhard
    Roth, Johannes
    Nuernberg, Peter
    Rutsch, Frank
    HUMAN MUTATION, 2010, 31 (11) : E1836 - E1850
  • [25] A case of Aicardi-Goutieres syndrome caused by TREX1 gene mutation
    Chenhan, Zheng
    Jun, Shao
    Yang, Ding
    Linliang, Yin
    Xiaowen, Gu
    Chunya, Ji
    Xuedong, Deng
    BMC PREGNANCY AND CHILDBIRTH, 2023, 23 (01)
  • [26] Neuropathological Findings in a Case of Aicardi-Goutieres Syndrome with IFIH-1 Mutation
    Gilani, Ahmed
    Capocelli, Kelley
    Wartchow, Eric
    Kleinschmidt-DeMasters, Bette
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2018, 77 (06): : 530 - 531
  • [27] Toxic Epidermal Necrolysis-Like Lesions as Cutaneous Manifestation of Acute Methotrexate Toxicity
    Singh, Raju
    Meena, Manju
    Patidar, Abhilasha
    Mittal, Asit
    INDIAN DERMATOLOGY ONLINE JOURNAL, 2021, 12 (02) : 340 - 341
  • [28] Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report
    Florido-Rodriguez, Alberto
    Eiris-Punal, Jesus
    Barros-Angueira, Francisco
    Toledo-Bravo de Laguna, Laura
    Santana-Artiles, Alexandre
    Sebastian-Garcia, Irma
    Santana-Rodriguez, Alfredo
    Cabrera-Lopez, Jose C.
    REVISTA DE NEUROLOGIA, 2016, 63 (07) : 309 - 314
  • [29] Clinical and Pathologic Features of Aicardi-Goutieres Syndrome Due to an IFIH1 Mutation: A Pediatric Case Report
    Marguet, Florent
    Laquerriere, Annie
    Goldenberg, Alice
    Guerrot, Anne-Marie
    Quenez, Olivier
    Flahaut, Philippe
    Vanhulle, Catherine
    Dumant-Forest, Clementine
    Charbonnier, Francoise
    Vezain, Myriam
    Bekri, Soumeya
    Tournier, Isabelle
    Frebourg, Thierry
    Nicolas, Gael
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (05) : 1317 - 1324
  • [30] Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis-Like Lupus Erythematosus
    Tankunakorn, Jutamas
    Sawatwarakul, Sirima
    Vachiramon, Vasanop
    Chanprapaph, Kumutnart
    JCR-JOURNAL OF CLINICAL RHEUMATOLOGY, 2019, 25 (05) : 224 - 231