Article
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Immunological reviews - 1 Dec 2000
Notarangelo L D, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio A G, Vihinen M, Candotti F, Schumacher R F
Abstract excerpt
Cytokines play a major role in lymphoid development. Defects of the common gamma chain (gamma(c)) or of the JAK3 protein in humans have been shown to result in a severe combined immune deficiency (SCID), with a profound defect in T and natural killer (NK)-cell development, whereas B-cell generation is apparently unaffected (T-B+NK-SCID). While extensive molecular and biochemical analysis of these patients has...
Topics
- Cytokines
- Female
- Humans
- Janus Kinase 3
- Killer Cells, Natural
- Male
- Models, Biological
- Mutation
- Phenotype
- Protein-Tyrosine Kinases
- Receptors, Interleukin-2
- Severe Combined Immunodeficiency
- Signal Transduction