Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.020 Biomarker group BEFREE Altogether, a pivotal role for SAP in promoting the expansion and differentiation of B cell-primed viral-specific naive CD8<sup>+</sup> T cells may explain the selective immune deficiency of XLP patients to EBV and B cell lymphomas. 28344876 2017
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.020 GeneticVariation group BEFREE In conclusion, SAP mutation or deletion in XLP patients causes profound defects in T cell activation, resulting in immune deficiency. 12766168 2003