CASP10, caspase 10, 843

N. diseases: 166; N. variants: 16
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		0.020 AlteredExpression disease BEFREE Studies of patients with autoimmune lymphoproliferative syndrome (ALPS) or caspase-8 deficiency state (CEDS) demonstrated the ability of gene expression microarray analyses and small interfering RNAs (siRNA) to establish the physiologically important roles of NRAS, caspase-10, and caspase-8 for normal lymphocyte apoptosis and activation. 18818883 2009
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
Autoimmune Lymphoproliferative Syndrome Type 2B 		0.020 Biomarker disease BEFREE Although both caspase-8- and caspase-10-deficient individuals had impaired apoptosis, those with caspase-8 deficiency, who also had immunodeficiency, had additional defects in activation of lymphocytes and natural killer cells. 12906772 2003