Article
ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.
Science (New York, N.Y.) - 10 Jun 1994
Chan A C, Kadlecek T A, Elder M E, Filipovich A H, Kuo W L, Iwashima M, Parslow T G, Weiss A
Abstract excerpt
Protein tyrosine kinases (PTKs) play an integral role in T cell activation and differentiation. Defects in the Src-family PTKs in mice and in T cell lines have resulted in variable defects in thymic development and in T cell antigen receptor (TCR) signal transduction. Here, three siblings are des...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Calcium
- Cell Line
- Child
- Female
- Gene Deletion
- Genes, Recessive
- Humans
- Lymphocyte Activation
- Male
- Molecular Sequence Data
- Mutation
- Point Mutation
- Protein-Tyrosine Kinases
- Receptors, Antigen, T-Cell
- Severe Combined Immunodeficiency