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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 16/06/2006 |
Symbol | CASP8D |
Location | 2q33.1 |
Name | defective lymphocyte activation and apoptosis |
Other name(s) |
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Corresponding gene | CASP8 |
Other symbol(s) | ALPS2B |
Main clinical features | lymphadenopathy, splenomegaly, immunodeficiency |
Genetic determination | autosomal recessive |
Function/system disorder | defense and immunity |
Type | disease |
Gene product |
Name | caspase 8 |
Remark(s) |