APCS, amyloid P component, serum, 325

N. diseases: 141; N. variants: 1
Disease: Lymphoproliferative Syndrome, X-Linked, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		0.050 Biomarker disease BEFREE We identified 13 and 7 patients with SAP and XIAP deficiency, respectively, in our center. 31754776 2020
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		0.050 Biomarker disease BEFREE Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). 21119115 2011
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		0.050 Biomarker disease BEFREE Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency. 20816973 2010
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		0.050 Biomarker disease BEFREE The discovery that SAP and XIAP deficiency leads to a defect in natural killer T cells has also shed light on novel signaling pathways required for natural killer T cell development and/or homeostasis. 17989527 2007
CUI: C1845076
Disease: Lymphoproliferative Syndrome, X-Linked, 2
Lymphoproliferative Syndrome, X-Linked, 2 		0.050 Biomarker disease BEFREE The observation that XIAP-deficiency and SAP-deficiency are both associated with a defect in NKT cells strengthens the hypothesis that NKT cells have a key role in the immune response to EBV. 17080092 2006