• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies.

作者信息

Mistry Anoop, Parry David, Matthews Bipin, Laws Philip, Goodfield Mark, Savic Sinisa

机构信息

Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, UK.

Centre for Genomic & Experimental Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, UK.

出版信息

J Clin Immunol. 2016 Jul;36(5):429-33. doi: 10.1007/s10875-016-0301-6. Epub 2016 May 23.

DOI:10.1007/s10875-016-0301-6
PMID:27215564
Abstract
摘要

相似文献

1
A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies.一例对多种免疫调节疗法无反应的SLC29A3谱系障碍病例。
J Clin Immunol. 2016 Jul;36(5):429-33. doi: 10.1007/s10875-016-0301-6. Epub 2016 May 23.
2
Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.患者携带 SLC29A3 新型大片段缺失纯合突变致 H 综合征。
Pediatr Dermatol. 2020 Mar;37(2):333-336. doi: 10.1111/pde.14075. Epub 2019 Dec 22.
3
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.SLC29A3 基因突变导致家族性组织细胞增多症(费萨拉巴德组织细胞增多症)和家族性 Rosai-Dorfman 病,该基因编码一种平衡核苷转运蛋白 ENT3。
PLoS Genet. 2010 Feb 5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.
4
SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.患者存在 SLC29A3 基因突变,表现为伴有胰岛素依赖型糖尿病、H 综合征和费萨拉巴德组织细胞增生症特征的综合征性糖尿病,伴有色素性多毛性角化过度皮肤病。
Diabetes Metab. 2013 May;39(3):281-5. doi: 10.1016/j.diabet.2013.03.007. Epub 2013 Apr 23.
5
Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.在两个具有 H 综合征的不同叙利亚家族中,鉴定出编码协同核苷转运蛋白(hENT3)的 SLC29A3 中的两个新突变:人皮肤中 SLC29A3(hENT3)的表达研究。
Dermatology. 2012;224(3):277-84. doi: 10.1159/000338886. Epub 2012 May 31.
6
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.SLC29A3 基因中一个新的纯合移码突变:一个新的病例报告及文献复习。
BMC Med Genet. 2019 Aug 29;20(1):147. doi: 10.1186/s12881-019-0879-7.
7
H syndrome: Clinical, histological and genetic investigation in Tunisian patients.H 综合征:突尼斯患者的临床、组织学和遗传学研究。
J Dermatol. 2018 Aug;45(8):978-985. doi: 10.1111/1346-8138.14359. Epub 2018 May 29.
8
H syndrome - the first report in Malaysia.H综合征——马来西亚的首例报告。
Int J Dermatol. 2019 Oct;58(10):e190-e193. doi: 10.1111/ijd.14518. Epub 2019 Jun 13.
9
Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.伴有广泛皮肤受累、腹膜后纤维化及雷诺现象的H综合征病例,SLC29A3基因存在新突变
J Dermatol. 2015 Dec;42(12):1169-71. doi: 10.1111/1346-8138.12973. Epub 2015 Jun 13.
10
A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.一个 SLC29A3 基因新型起始缺失突变的同型合子家系与 H 综合征:临床特征、计算机分析和文献复习。
BMC Med Genomics. 2024 Jul 4;17(1):178. doi: 10.1186/s12920-024-01949-w.

引用本文的文献

1
Rheumatological manifestations of H syndrome.H综合征的风湿性表现。
Reumatologia. 2024;62(4):294-303. doi: 10.5114/reum/191751. Epub 2024 Sep 16.
2
Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.H 综合征的临床进展和表现:一种治疗失败选择的病例报告。
Am J Case Rep. 2024 Jun 8;25:e944198. doi: 10.12659/AJCR.944198.
3
Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study.H 综合征中的风湿学表现:从炎症特征分析到病例研究中的靶向治疗。

本文引用的文献

1
Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.伴有广泛皮肤受累、腹膜后纤维化及雷诺现象的H综合征病例,SLC29A3基因存在新突变
J Dermatol. 2015 Dec;42(12):1169-71. doi: 10.1111/1346-8138.12973. Epub 2015 Jun 13.
2
H syndrome: the first 79 patients.H 综合征:79 例首诊患者
J Am Acad Dermatol. 2014 Jan;70(1):80-8. doi: 10.1016/j.jaad.2013.09.019. Epub 2013 Oct 27.
3
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.
Pediatr Rheumatol Online J. 2024 Jan 23;22(1):21. doi: 10.1186/s12969-023-00950-4.
4
H syndrome treated with Tocilizumab: two case reports and literature review.托珠单抗治疗 H 综合征:两例病例报告及文献复习。
Front Immunol. 2023 Aug 11;14:1061182. doi: 10.3389/fimmu.2023.1061182. eCollection 2023.
5
Solute Carrier Nucleoside Transporters in Hematopoiesis and Hematological Drug Toxicities: A Perspective.造血作用和血液学药物毒性中的溶质载体核苷转运体:一种观点
Cancers (Basel). 2022 Jun 25;14(13):3113. doi: 10.3390/cancers14133113.
6
Case report of H-syndrome with a review from a rheumatological perspective.H 综合征病例报告,并从风湿病学角度进行回顾。
BMJ Case Rep. 2022 Jun 22;15(6):e249414. doi: 10.1136/bcr-2022-249414.
7
Review of the current literature on H syndrome treatment.关于H综合征治疗的当前文献综述。
J Family Med Prim Care. 2022 Mar;11(3):857-860. doi: 10.4103/jfmpc.jfmpc_1435_21. Epub 2022 Mar 10.
8
Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder.一种被认为患有 1 型糖尿病的儿童出现的非典型共病现象导致了 SLC29A3 谱系障碍的诊断。
Hormones (Athens). 2022 Sep;21(3):501-506. doi: 10.1007/s42000-022-00352-3. Epub 2022 Mar 14.
9
Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.患有 H 综合征、心源性休克、多器官浸润和手指缺血的患者。
Pediatr Rheumatol Online J. 2021 Jun 30;19(1):104. doi: 10.1186/s12969-021-00586-2.
10
'H-syndrome': a multisystem genetic disorder with cutaneous clues.“H综合征”:一种具有皮肤线索的多系统遗传性疾病。
BMJ Case Rep. 2021 May 4;14(5):e238973. doi: 10.1136/bcr-2020-238973.
色素沉着性多毛症与非自身免疫性胰岛素依赖型糖尿病(PHID)综合征与严重慢性炎症和心肌病相关,是一种新的单基因自身炎症综合征。
J Pediatr Endocrinol Metab. 2013;26(9-10):877-82. doi: 10.1515/jpem-2013-0062.
4
SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.患者存在 SLC29A3 基因突变,表现为伴有胰岛素依赖型糖尿病、H 综合征和费萨拉巴德组织细胞增生症特征的综合征性糖尿病,伴有色素性多毛性角化过度皮肤病。
Diabetes Metab. 2013 May;39(3):281-5. doi: 10.1016/j.diabet.2013.03.007. Epub 2013 Apr 23.
5
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.SLC29A3 基因突变:一种新的单基因、自炎症性疾病的病因。
Pediatrics. 2013 Apr;131(4):e1308-13. doi: 10.1542/peds.2012-2255. Epub 2013 Mar 25.
6
The human concentrative and equilibrative nucleoside transporter families, SLC28 and SLC29.人类集中和平衡核苷转运体家族,SLC28 和 SLC29。
Mol Aspects Med. 2013 Apr-Jun;34(2-3):529-47. doi: 10.1016/j.mam.2012.05.007.
7
Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.平衡核苷转运蛋白 3 缺乏会扰乱溶酶体功能和巨噬细胞内稳态。
Science. 2012 Jan 6;335(6064):89-92. doi: 10.1126/science.1213682. Epub 2011 Dec 15.
8
A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.一例表现出与罗萨伊-多夫曼病免疫表型相似性的H综合征病例。
Am J Dermatopathol. 2011 Feb;33(1):47-51. doi: 10.1097/DAD.0b013e3181ee547c.
9
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.人平衡核苷转运蛋白-3(hENT3)谱障碍突变会损害核苷转运、蛋白定位和稳定性。
J Biol Chem. 2010 Sep 3;285(36):28343-52. doi: 10.1074/jbc.M110.109199. Epub 2010 Jul 1.
10
H syndrome: novel and recurrent mutations in SLC29A3.H 综合征:SLC29A3 中的新型和复发性突变。
Br J Dermatol. 2010 May;162(5):1132-4. doi: 10.1111/j.1365-2133.2010.09653.x. Epub 2010 Feb 25.