PMID- 10412980
OWN - NLM
STAT- MEDLINE
DCOM- 19990809
LR  - 20201226
IS  - 0092-8674 (Print)
IS  - 0092-8674 (Linking)
VI  - 98
IP  - 1
DP  - 1999 Jul 9
TI  - Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic 
      cell apoptosis in autoimmune lymphoproliferative syndrome type II.
PG  - 47-58
AB  - 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.
FAU - Wang, J
AU  - Wang J
AD  - Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, 
      National Institutes of Health, Bethesda, Maryland 20892, USA.
FAU - Zheng, L
AU  - Zheng L
FAU - Lobito, A
AU  - Lobito A
FAU - Chan, F K
AU  - Chan FK
FAU - Dale, J
AU  - Dale J
FAU - Sneller, M
AU  - Sneller M
FAU - Yao, X
AU  - Yao X
FAU - Puck, J M
AU  - Puck JM
FAU - Straus, S E
AU  - Straus SE
FAU - Lenardo, M J
AU  - Lenardo MJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cell
JT  - Cell
JID - 0413066
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Apoptosis Regulatory Proteins)
RN  - 0 (Carrier Proteins)
RN  - 0 (DNA Primers)
RN  - 0 (FADD protein, human)
RN  - 0 (FASLG protein, human)
RN  - 0 (Fas Ligand Protein)
RN  - 0 (Fas-Associated Death Domain Protein)
RN  - 0 (Membrane Glycoproteins)
RN  - 0 (Recombinant Proteins)
RN  - 0 (TNF-Related Apoptosis-Inducing Ligand)
RN  - 0 (TNFSF10 protein, human)
RN  - 0 (Tumor Necrosis Factor-alpha)
RN  - 0 (fas Receptor)
RN  - EC 3.4.22.- (Caspase 10)
RN  - EC 3.4.22.- (Caspases)
RN  - EC 3.4.22.63 (CASP10 protein, human)
SB  - IM
MH  - *Adaptor Proteins, Signal Transducing
MH  - Amino Acid Substitution
MH  - Apoptosis
MH  - Apoptosis Regulatory Proteins
MH  - Autoimmune Diseases/enzymology/*genetics/immunology
MH  - Breast Neoplasms
MH  - Carrier Proteins/physiology
MH  - Caspase 10
MH  - Caspases/*genetics
MH  - Cells, Cultured
MH  - Child
MH  - DNA Primers
MH  - Dendritic Cells/pathology/*physiology
MH  - Fas Ligand Protein
MH  - Fas-Associated Death Domain Protein
MH  - Female
MH  - HeLa Cells
MH  - Homeostasis
MH  - Humans
MH  - Lymphocytes/pathology/*physiology
MH  - Lymphoproliferative Disorders/enzymology/*genetics/immunology
MH  - Membrane Glycoproteins/physiology
MH  - *Mutation, Missense
MH  - Recombinant Proteins/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - TNF-Related Apoptosis-Inducing Ligand
MH  - Transfection
MH  - Tumor Necrosis Factor-alpha/physiology
MH  - fas Receptor/physiology
EDAT- 1999/07/21 00:00
MHDA- 1999/07/21 00:01
CRDT- 1999/07/21 00:00
PHST- 1999/07/21 00:00 [pubmed]
PHST- 1999/07/21 00:01 [medline]
PHST- 1999/07/21 00:00 [entrez]
AID - S0092-8674(00)80605-4 [pii]
AID - 10.1016/S0092-8674(00)80605-4 [doi]
PST - ppublish
SO  - Cell. 1999 Jul 9;98(1):47-58. doi: 10.1016/S0092-8674(00)80605-4.