Article
Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
Blood - 1 Feb 1998
Brugnoni D, Notarangelo L D, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio A G, Imberti L
Abstract excerpt
Defects of the common gamma chain subunit of the cytokine receptors (gamma c) or of Jak3, a tyrosine kinase required for gamma c signal transduction, result in T-B+ severe combined immunodeficiency (SCID). However, atypical cases, characterized by progressive development of T lymphocytes, have be...
Topics
- Cell Death
- Cell Division
- Cytokines
- Gene Expression
- Humans
- Immunophenotyping
- Infant, Newborn
- Janus Kinase 3
- Lymphocyte Activation
- Male
- Phenotype
- Protein-Tyrosine Kinases
- Proto-Oncogene Proteins c-bcl-2