Article
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Blood - 15 Nov 1997
Candotti F, Oakes S A, Johnston J A, Giliani S, Schumacher R F, Mella P, Fiorini M, Ugazio A G, Badolato R, Notarangelo L D, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese R M, O'Shea J J, Villa A
Abstract excerpt
Mutations of the Janus family kinase JAK3 have been found to be responsible for autosomal recessive severe combined immunodeficiency (SCID) in humans. We report here the analysis of four new unrelated patients affected by JAK3-deficient SCID. The genetic defects were heterogeneous and included a...
Topics
- B-Lymphocytes
- Cells, Cultured
- Humans
- Interleukin-2
- Interleukin-4
- Janus Kinase 3
- Mutation
- Protein-Tyrosine Kinases
- Severe Combined Immunodeficiency