Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

被引：481

作者：

Wang, J

Zheng, LX

Lobito, A

Chan, FKM

Dale, J

Sneller, M

Yao, X

Puck, JM

Straus, SE

Lenardo, MJ ^{[1
]}

机构：

[1] NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

[2] NIAID, Clin Invest Lab, NIH, Bethesda, MD 20892 USA

[3] NIAID, Immunoregulat Lab, NIH, Bethesda, MD 20892 USA

[4] Natl Human Genome Res Inst, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA

[5] NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA

来源：

CELL | 1999年 / 98卷 / 01期

关键词：

D O I：

10.1016/S0092-8674(00)80605-4

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 Pas ligand and TRAIL. These results provide evidence that inherited nonlethal caspase abnormalities cause pleiotropic apoptosis defects underlying autoimmunity in ALPS type II.

引用

页码：47 / 58

页数：12

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[21] In vivo detection of dendritic cell antigen presentation to CD4(+) T cells [J].