Abstract:
:Caspases are cysteine proteases that mediate programmed cell death in phylogenetically diverse multicellular organisms. We report here two kindreds with autoimmune lymphoproliferative syndrome (ALPS) type II, characterized by abnormal lymphocyte and dendritic cell homeostasis and immune regulatory defects, that harbor independent missense mutations in Caspase 10. These encode amino acid substitutions that decrease caspase activity and interfere with death receptor-induced apoptosis, particularly that stimulated by Fas ligand and TRAIL. These results provide evidence that inherited nonlethal caspase abnormalities cause pleiotropic apoptosis defects underlying autoimmunity in ALPS type II.
journal_name
Celljournal_title
Cellauthors
Wang J,Zheng L,Lobito A,Chan FK,Dale J,Sneller M,Yao X,Puck JM,Straus SE,Lenardo MJdoi
10.1016/S0092-8674(00)80605-4subject
Has Abstractpub_date
1999-07-09 00:00:00pages
47-58issue
1eissn
0092-8674issn
1097-4172pii
S0092-8674(00)80605-4journal_volume
98pub_type
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