Article
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
British journal of haematology - 1 Sept 1998
Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher R F, Khalil G, Loiselet J, Bresciani S, O'Shea J J, Vezzoni P, Notarangelo L D, Candotti F
Abstract excerpt
Severe combined immunodeficiency (SCID) comprises a heterogenous group of disorders that are fatal unless treated by bone marrow transplantation (BMT). The most common form of SCID (T-B+ SCID) is due to mutations of either the common gamma chain (gammac) or of gammac-coupled JAK3 kinase. We repor...
Topics
- B-Lymphocytes
- Blotting, Western
- Bone Marrow Transplantation
- Female
- Gene Deletion
- Humans
- Janus Kinase 3
- Mutation
- Phosphorylation
- Protein-Tyrosine Kinases
- Reverse Transcriptase Polymerase Chain Reaction
- Severe Combined Immunodeficiency
- T-Lymphocytes