Immunodeficiency mutation databases
(2000) IXth Meeting of the European-Society-for-Immunodeficiencies p.207-213- Abstract
- Several immunodeficiency-related genes are known and a numb er of disease causing mutations have been identified. Immunodeficiency related mutation information have been collected into IDbases. We are currently maintaining 15 registries, which are available at http://www.uta.fi/imt/bioinfo/. The databases are available for the following disorders: adenosine deaminase, CD3 epsilon, CD3 gamma, JAK3, RAGI, RAG2, and ZAP-70 deficiencies, Bloom, X-linked hyper IgM and X-linked lymphoproliferative syndromes, X-linked agammaglobulinemia, and four forms of chronic granulomatous disease. The databases serve as knowledge bases for the disorders. They have been collected with the aid from the immunodeficiency research community and we ask the... (More)
- Several immunodeficiency-related genes are known and a numb er of disease causing mutations have been identified. Immunodeficiency related mutation information have been collected into IDbases. We are currently maintaining 15 registries, which are available at http://www.uta.fi/imt/bioinfo/. The databases are available for the following disorders: adenosine deaminase, CD3 epsilon, CD3 gamma, JAK3, RAGI, RAG2, and ZAP-70 deficiencies, Bloom, X-linked hyper IgM and X-linked lymphoproliferative syndromes, X-linked agammaglobulinemia, and four forms of chronic granulomatous disease. The databases serve as knowledge bases for the disorders. They have been collected with the aid from the immunodeficiency research community and we ask the scientist performing mutation analyses to continue to submit data to the registries. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3852244
- author
- Valiaho, J ; Hershfield, M ; Notarangelo, LD ; Regueiro, JR ; Roos, D ; Smith, CIE ; Villa, A and Vihinen, Mauno LU
- publishing date
- 2000
- type
- Chapter in Book/Report/Conference proceeding
- publication status
- published
- subject
- host publication
- IX MEETING OF THE EUROPEAN SOCIETY FOR IMMUNODEFICIENCIES
- pages
- 207 - 213
- publisher
- Medimond
- conference name
- IXth Meeting of the European-Society-for-Immunodeficiencies
- conference dates
- 2000-11-05 - 2000-11-08
- external identifiers
-
- wos:000167541600029
- language
- English
- LU publication?
- no
- id
- 164f6b6c-120c-4230-a3dd-a4ce0547c86f (old id 3852244)
- date added to LUP
- 2016-04-04 10:10:11
- date last changed
- 2018-11-21 20:57:11
@inproceedings{164f6b6c-120c-4230-a3dd-a4ce0547c86f, abstract = {{Several immunodeficiency-related genes are known and a numb er of disease causing mutations have been identified. Immunodeficiency related mutation information have been collected into IDbases. We are currently maintaining 15 registries, which are available at http://www.uta.fi/imt/bioinfo/. The databases are available for the following disorders: adenosine deaminase, CD3 epsilon, CD3 gamma, JAK3, RAGI, RAG2, and ZAP-70 deficiencies, Bloom, X-linked hyper IgM and X-linked lymphoproliferative syndromes, X-linked agammaglobulinemia, and four forms of chronic granulomatous disease. The databases serve as knowledge bases for the disorders. They have been collected with the aid from the immunodeficiency research community and we ask the scientist performing mutation analyses to continue to submit data to the registries.}}, author = {{Valiaho, J and Hershfield, M and Notarangelo, LD and Regueiro, JR and Roos, D and Smith, CIE and Villa, A and Vihinen, Mauno}}, booktitle = {{IX MEETING OF THE EUROPEAN SOCIETY FOR IMMUNODEFICIENCIES}}, language = {{eng}}, pages = {{207--213}}, publisher = {{Medimond}}, title = {{Immunodeficiency mutation databases}}, year = {{2000}}, }