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新型免疫缺陷数据服务器。

Novel immunodeficiency data servers.

作者信息

Väliaho J, Riikonen P, Vihinen M

机构信息

Institute of Medical Technology, University of Tampere, Finland.

出版信息

Immunol Rev. 2000 Dec;178:177-85. doi: 10.1034/j.1600-065x.2000.17807.x.

DOI:10.1034/j.1600-065x.2000.17807.x
PMID:11213802
Abstract

The Internet contains scientific information in increasing amounts. It is possible to obtain the latest information, and Web services can easily be maintained and updated. We have set up three Internet services on immunodeficiencies. Immunodeficiency-related mutation infor mation is available in immunodeficiency mutation databases (IDbases). Currently 14 registries are distributed, including information about Bloom syndrome (BLMbase), X-linked agammaglobulinemia (BTKbase), X-linked and autosomal recessive chronic granulomatous diseases (CYBBbase for X-linked CGD, CYBAbase for p22(phox) deficiency, NCF1base for p47(phox) deficiency, NCF2base for p67(phox) deficiency), CD3gamma and CD3epsilon deficiencies (CD3Gbase, CD3Ebase), X-linked hyper-IgM syndrome (CD40Lbase), T-B+ severe combined immunodeficiency (JAK3base), V(D)J recombination defects (RAG1base, RAG2base), X-linked lymphoproliferative syndrome (SH2D1Abase), and ZAP-70 deficiency (ZAP70base). Information on laboratories analysing the genetic defects is collected to IDdiagnostics registry. Due to the rareness of immunodeficiencies there are very few laboratories performing genetic diagnostics. Such laboratories are listed in IDdiagnostics and physicians can use the registry to find a suitable laboratory for their diagnostic needs. Immunodeficiency Resource (IDR) is a comprehensive integrated knowledge base for all the information on immunode ficiencies, including clinical, biochemical, genetic, structural and computational data and analyses. All three services are available at http: //www.uta.fi/imt/bioinfo/.

摘要

互联网上的科学信息数量日益增加。获取最新信息成为可能,并且网络服务易于维护和更新。我们已经建立了三项关于免疫缺陷的互联网服务。免疫缺陷相关的突变信息可在免疫缺陷突变数据库(IDbases)中获取。目前已发布了14个注册库,包括布卢姆综合征(BLMbase)、X连锁无丙种球蛋白血症(BTKbase)、X连锁和常染色体隐性慢性肉芽肿病(X连锁慢性肉芽肿病的CYBBbase、p22(phox) 缺陷的CYBAbase、p47(phox) 缺陷的NCF1base、p67(phox) 缺陷的NCF2base)、CD3γ和CD3ε缺陷(CD3Gbase、CD3Ebase)、X连锁高IgM综合征(CD40Lbase)、T - B + 重症联合免疫缺陷(JAK3base)、V(D)J重组缺陷(RAG1base、RAG2base)、X连锁淋巴增殖综合征(SH2D1Abase)以及ZAP - 70缺陷(ZAP70base)的信息。分析基因缺陷的实验室信息被收集到IDdiagnostics注册库中。由于免疫缺陷疾病罕见,进行基因诊断的实验室非常少。这些实验室在IDdiagnostics中列出,医生可以使用该注册库找到适合其诊断需求的实验室。免疫缺陷资源(IDR)是一个全面的综合知识库,涵盖了所有关于免疫缺陷的信息,包括临床、生化、遗传、结构和计算数据及分析。所有这三项服务均可在http://www.uta.fi/imt/bioinfo/上获取。

相似文献

1
Novel immunodeficiency data servers.新型免疫缺陷数据服务器。
Immunol Rev. 2000 Dec;178:177-85. doi: 10.1034/j.1600-065x.2000.17807.x.
2
Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics.遗传与临床免疫缺陷诊断实验室在线注册库,ID诊断。
J Clin Immunol. 2004 Jan;24(1):53-61. doi: 10.1023/B:JOCI.0000018063.55963.0c.
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[Molecular diagnosis of primary immunodeficiencies].[原发性免疫缺陷的分子诊断]
Allergol Immunopathol (Madr). 2001 May-Jun;29(3):107-13. doi: 10.1016/s0301-0546(01)79028-3.
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Registries of immunodeficiency patients and mutations.免疫缺陷患者和突变登记处。
Hum Mutat. 1997;10(4):261-7. doi: 10.1002/(SICI)1098-1004(1997)10:4<261::AID-HUMU1>3.0.CO;2-K.
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IDR: the ImmunoDeficiency Resource.免疫缺陷资源库(IDR)
Nucleic Acids Res. 2002 Jan 1;30(1):232-4. doi: 10.1093/nar/30.1.232.
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Immunodeficiency mutation databases (IDbases).免疫缺陷突变数据库(IDbases)。
Hum Mutat. 2006 Dec;27(12):1200-8. doi: 10.1002/humu.20405.
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Prenatal diagnosis and genetic analysis of X-linked immunodeficiency disorders.X连锁免疫缺陷疾病的产前诊断与基因分析
Pediatr Res. 1993 Jan;33(1 Suppl):S29-33; discussion S33-4. doi: 10.1203/00006450-199305001-00158.
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The German national registry for primary immunodeficiencies (PID).德国原发性免疫缺陷病(PID)国家登记处。
Clin Exp Immunol. 2013 Aug;173(2):372-80. doi: 10.1111/cei.12105.
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X chromosome linked immunodeficiency.X染色体连锁免疫缺陷
Immunodefic Rev. 1990;2(3):233-51.
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Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.基于二氢罗丹明123检测法评估男性慢性肉芽肿病患者的诊断范式。
J Allergy Clin Immunol. 2003 Feb;111(2):374-9. doi: 10.1067/mai.2003.58.

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BMC Med Inform Decis Mak. 2005 Jun 26;5:21. doi: 10.1186/1472-6947-5-21.
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Online registry of genetic and clinical immunodeficiency diagnostic laboratories, IDdiagnostics.遗传与临床免疫缺陷诊断实验室在线注册库,ID诊断。
J Clin Immunol. 2004 Jan;24(1):53-61. doi: 10.1023/B:JOCI.0000018063.55963.0c.
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IDR: the ImmunoDeficiency Resource.免疫缺陷资源库(IDR)
Nucleic Acids Res. 2002 Jan 1;30(1):232-4. doi: 10.1093/nar/30.1.232.