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
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2016年 / 174卷 / 04期
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
  • [41] Severe diarrhea in a 10-year-old girl with Aicardi-Goutieres syndrome due to IFIH1 gene mutation
    Lu, Meiping
    Zhu, Kun
    Zheng, Qi
    Ma, Xiaohui
    Zou, Lixia
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (10) : 3146 - 3152
  • [42] Intracerebral large artery disease in Aicardi-Goutieres syndrome with TREX1 mutation: a case report
    Wu, Chang-Chun
    Peng, Steven Shinn-Forng
    Lee, Wang-Tso
    NEUROLOGICAL SCIENCES, 2020, 41 (11) : 3353 - 3356
  • [43] New insights in Aicardi-Goutieres syndrome: characterization of novel players in a RNU7-1 mutation
    Maghraby, Erika
    Rey, Federica
    Esposito, Letizia
    Zuccotti, Gian Vincenzo
    Tonduti, Davide
    Carelli, Stephana
    Cereda, Cristina
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1761 - 1761
  • [44] Erythema multiforme-like lesions in a patient with systemic lupus erythematosus progressing to toxic epidermal necrolysis-like lupus
    Steele, Lloyd
    Pyne, Dev
    Jeetle, Sharanpal
    Cunningham, Malvina
    Goldsmith, Portia
    Dhoat, Sasha
    Kelly, Stephen
    Goiriz, Rebeca
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2023, 48 (10) : 1205 - 1207
  • [45] Stevens-Johnson syndrome and toxic epidermal necrolysis-like reactions to checkpoint inhibitors: a systematic review
    Maloney, Nolan J.
    Ravi, Vignesh
    Cheng, Kyle
    Bach, Daniel Q.
    Worswick, Scott
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2020, 59 (06) : E183 - E188
  • [46] Toxic epidermal necrolysis-like acute cutaneous lupus/acute syndrome of apoptotic pan-epidermolysis
    Mir, Tajamul H.
    Bhat, Irfan A.
    Jabeen, Bushra
    Haji, Mir Laieeq, I
    RHEUMATOLOGY, 2021, 60 (12) : 5876 - 5877
  • [47] SAMHD1-Deficient CD14+ Cells from Individuals with Aicardi-Goutieres Syndrome Are Highly Susceptible to HIV-1 Infection
    Berger, Andre
    Sommer, Andreas F. R.
    Zwarg, Jenny
    Hamdorf, Matthias
    Welzel, Karin
    Esly, Nicole
    Panitz, Sylvia
    Reuter, Andreas
    Ramos, Irene
    Jatiani, Asavari
    Mulder, Lubbertus C. F.
    Fernandez-Sesma, Ana
    Rutsch, Frank
    Simon, Viviana
    Koenig, Renate
    Flory, Egbert
    PLOS PATHOGENS, 2011, 7 (12)
  • [48] A de novo p.Asp18Asn Mutation in TREX1 in a Patient With Aicardi-Goutieres Syndrome
    Haaxma, Charlotte A.
    Crow, Yanick J.
    van Steensel, Maurice A. M.
    Lammens, Martin M. Y.
    Rice, Gillian I.
    Verbeek, Marcel M.
    Willemsen, Michel A. A. P.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (10) : 2612 - 2617
  • [49] Blue (or purple) toes: Chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutieres syndrome and familial chilblain lupus
    Prendiville, Julie S.
    Crow, Yanick J.
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2009, 61 (04) : 727 - 728
  • [50] Case Report: Aicardi-Goutieres Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1
    Xiao, Wei
    Feng, Jie
    Long, Hongyu
    Xiao, Bo
    Luo, Zhaohui H.
    FRONTIERS IN GENETICS, 2021, 12
12345