Definitive

Male patient with lymphoma/ Hodgkins disease, fatal EBV infection, immunodeficiency, aplastic anemia or lymphohistiocytic disorder who has a mutation in SH2D1A/SAP/DSHP.

Probable

Male patient experiencing death, lymphoma/Hodgkins disease, immunodeficiency, aplastic anemia or lymphohistiocytic disorder following acute EBV infection and maternal cousins, uncles or nephews with a history of similar diagnoses following acute EBV infection.

Possible

Male patient experiencing death, lymphoma/Hodgkin's disease, immunodeficiency, aplastic anemia or lymphohistiocytic disorder following acute EBV infection.

Spectrum of disease

Males with XLP are usually asymptomatic until they develop EBV infection, which may cause fulminant hepatitis (60% of all patients), particularly in young children.

Hodgkin or non-Hodgkin lymphoma (30%), and/or immune deficiency with low serum IgG and abnormal NK cell function (30%) are more likely to develop in older patients. Less common manifestations include EBV-associated hemophagocytic syndrome and vasculitis. The vast majority of patients die in childhood; survival rate is very poor for males with fulminant hepatitis (<5%), and higher for those with isolated dysgammaglobulinemia (50%).