STXBP2, syntaxin binding protein 2, 6813

N. diseases: 37; N. variants: 12
Disease: Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4289792
Disease: Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form 		0.010 GeneticVariation disease BEFREE Here we report a patient with prolonged severe CAEBV who underwent bone marrow transplant for his disease and subsequently was found to have compound heterozygous mutations in STXBP2 (MUNC18-2) as well as a heterozygous mutation in PRF1 (perforin 1). 25947952 2015