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The multiple causes of human SCID.
- Source :
-
The Journal of clinical investigation [J Clin Invest] 2004 Nov; Vol. 114 (10), pp. 1409-11. - Publication Year :
- 2004
-
Abstract
- SCID, a syndrome characterized by the absence of T cells and adaptive immunity, can result from mutations in multiple genes that encode components of the immune system. Three such components are cytokine receptor chains or signaling molecules, five are needed for antigen receptor development, one is adenosine deaminase--a purine salvage pathway enzyme, and the last is a phosphatase, CD45. In this issue of the JCI, a report describes how complete deficiency of the CD3epsilon chain of the T cell antigen receptor/CD3 complex causes human SCID.
- Subjects :
- Adenosine Deaminase genetics
CD3 Complex genetics
Chromosomes, Human, Pair 11
Chromosomes, Human, X
Genetic Linkage
Genetic Markers
Humans
Leukocyte Common Antigens genetics
Models, Biological
Mutation
Pedigree
Protein Subunits genetics
Receptor-CD3 Complex, Antigen, T-Cell genetics
Receptors, Antigen, T-Cell genetics
Receptors, Cytokine metabolism
Severe Combined Immunodeficiency genetics
Adenosine Deaminase deficiency
CD3 Complex chemistry
Protein Subunits chemistry
Receptor-CD3 Complex, Antigen, T-Cell deficiency
Receptors, Antigen, T-Cell deficiency
Severe Combined Immunodeficiency etiology
Subjects
Details
- Language :
- English
- ISSN :
- 0021-9738
- Volume :
- 114
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- The Journal of clinical investigation
- Publication Type :
- Academic Journal
- Accession number :
- 15545990
- Full Text :
- https://doi.org/10.1172/JCI23571