Article
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation.
Genes and immunity - 1 Mar 2015
Clemente N, Boggio E, Gigliotti C L, Orilieri E, Cappellano G, Toth E, Valletti P A, Santoro C, Quinti I, Pignata C, Notarangelo L D, Dianzani C, Dianzani I, Ramenghi U, Dianzani U, Chiocchetti A
Abstract excerpt
Lymphocyte apoptosis is mainly induced by either death receptor-dependent activation of caspase-8 or mitochondria-dependent activation of caspase-9. Mutations in caspase-8 lead to autoimmunity/lymphoproliferation and immunodeficiency. This work describes a heterozygous H237P mutation in caspase-9 that can lead to similar disorders. H237P mutation was detected in two patients: Pt1 with...
Topics
- Adolescent
- Adult
- Apoptosis
- B-Cell Activation Factor Receptor
- Caspase 9
- Down-Regulation
- HEK293 Cells
- Humans
- Immunologic Deficiency Syndromes
- Inducible T-Cell Co-Stimulator Protein
- Lymphoproliferative Disorders
- Male