Article
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Nature - 7 Sept 1995
Macchi P, Villa A, Giliani S, Sacco M G, Frattini A, Porta F, Ugazio A G, Johnston J A, Candotti F, O'Shea J J
Abstract excerpt
Severe combined immune deficiency (SCID) represents a heterogenous group of hereditary diseases. Mutations in the common gamma-chain (gamma c), which is part of several cytokine receptors including those for interleukin (IL)-2, IL-4, IL-7, IL-9 and IL-15, are responsible for X-linked SCID, which...
Topics
- B-Lymphocytes
- Base Sequence
- Cell Line, Transformed
- DNA Mutational Analysis
- DNA Primers
- Humans
- Janus Kinase 3
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Protein-Tyrosine Kinases
- Sequence Deletion
- Severe Combined Immunodeficiency
- T-Lymphocytes