Autoimmune Lymphoproliferative Syndrome Type 2B

Known as: Caspase-8 Deficiencies, Caspase-8 Deficiency, Deficiency, Caspase-8 
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene.
National Institutes of Health

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AsthmaAutosomal recessive inheritanceChronic diarrheaEczema
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Autoimmune Lymphoproliferative Syndrome

Papers overview

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Highly Cited
2011
Highly Cited
2011
Mechanisms of necroptosis in T cells
Cell populations are regulated in size by at least two forms of apoptosis. More recently, necroptosis, a parallel, nonapoptotic… (More)
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2009
2009
Caspase-8 deficiency in epidermal keratinocytes triggers an inflammatory skin disease
Expression of enzymatically inactive caspase-8, or deletion of caspase-8 from basal epidermal keratinocytes, triggers chronic… (More)
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2006
2006
5-Aza-2′-deoxycytidine and IFN-γ cooperate to sensitize for TRAIL-induced apoptosis by upregulating caspase-8
Resistance of tumors to cytotoxic therapy remains a major obstacle in cancer treatment and is often caused by defects in… (More)
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2006
2006
Apoptosome-independent activation of the lysosomal cell death pathway by caspase-9.
The apoptosome, a heptameric complex of Apaf-1, cytochrome c, and caspase-9, has been considered indispensable for the activation… (More)
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Highly Cited
2003
Highly Cited
2003
ER stress induces caspase-8 activation, stimulating cytochrome c release and caspase-9 activation.
Excess ER stress induces caspase-12 activation and/or cytochrome c release, causing caspase-9 activation. Little is known about… (More)
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Highly Cited
2002
Highly Cited
2002
IFNγ sensitizes for apoptosis by upregulating caspase-8 expression through the Stat1 pathway
Resistance of tumors to cytotoxic therapy may be due to disrupted apoptosis programs and remains a major obstacle in cancer… (More)
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2002
2002
Clustered encouragement designs with individual noncompliance: bayesian inference with randomization, and application to advance directive forms.
In many studies comparing a new 'target treatment' with a control target treatment, the received treatment does not always agree… (More)
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Highly Cited
2002
Highly Cited
2002
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
Apoptosis is a form of programmed cell death that is controlled by aspartate-specific cysteine proteases called caspases. In the… (More)
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Highly Cited
2001
Highly Cited
2001
Resistance to tumor necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced apoptosis in neuroblastoma cells correlates with a loss of caspase-8 expression.
Disruption of apoptotic pathways may be involved in tumor formation, regression, and treatment resistance of neuroblastoma (NB… (More)
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Highly Cited
1995
Highly Cited
1995
Intrinsic epileptogenicity of human dysplastic cortex as suggested by corticography and surgical results.
Cortical dysplastic lesions (CDyLs) are often associated with severe partial epilepsies. We describe the electrographic… (More)
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