rs397518423, PIK3CD

N. diseases: 10
Disease: EBV viremia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EBV viremia
CUI: C1701919
Disease: EBV viremia
0.010 GeneticVariation BEFREE Here we report a dominant gain of function PIK3CD mutation (E1021K) in a patient presenting with recurrent otitis media, massive splenomegaly, and persistent EBV-viraemia. 28842185 2017