During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3-gene, encoding for a tyrosine kinase that is functionally coupled to cytok
β¦ LIBER β¦
828 Deficiency of janus kinase 3 (Jak3) protein in severe combined immunodeficiency (SCID)
β Scribed by ROBERTS, J; OSHEA, J; PUCK, J; BUCKLEY, R
- Book ID
- 119496151
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 123 KB
- Volume
- 97
- Category
- Article
- ISSN
- 1097-6825
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Defects of the JAK3-gene are known to cause an autosomal recessive form of severe combined immunodeficiency with almost absent T-cells and functionally defective B-cells (T-B+SCID). The JAK3 protein, an intracellular tyrosine kinase, is crucial for signaltransmission from the common gamma chain to t