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Type 2 Autoimmune Lymphoproliferative Syndrome
Known as:
ALPS-CASP10
, Autoimmune Lymphoproliferative Syndrome-CASP10 variant
, Type 2 ALPS
A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the…
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National Institutes of Health
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Related topics
Related topics
10 relations
Anemia
Atypical lymphocyte
Autoimmune Diseases
Hodgkin Disease
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Clinical Spectrum of Autoimmune Lymphoproliferative Syndrome Associated with Caspase10 Mutations (ALPS-CASP10)
V. Rao
,
S. Price
,
Morgan N. Similuk
,
J. Niemela
,
J. Milner
,
S. Rosenzweig
2016
Corpus ID: 78556720
Autoimmune lymphoproliferative syndrome (ALPS) is a rare disorder of the immune system due to defective Fas-mediated apoptosis…
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Highly Cited
2010
Highly Cited
2010
Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
C. Engel
,
B. Versmold
,
+65 authors
R. Schmutzler
Cancer Epidemiology, Biomarkers and Prevention
2010
Corpus ID: 29561848
Background: The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of…
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Highly Cited
2006
Highly Cited
2006
Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant.
B. Frank
,
K. Hemminki
,
+7 authors
B. Burwinkel
Carcinogenesis
2006
Corpus ID: 24823096
Dysregulation of apoptosis plays a crucial role in carcinogenesis. As part of death receptor- and mitochondrion-mediated…
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