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X-linked lymphoproliferative disease Case report

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ESID Prague Spring Meeting, May 2006<br />

ESID diagnostic criteria for XLP<br />

• Definitive<br />

Male patient with lymphoma/ Hodgkins <strong>disease</strong>, fatal EBV infection,<br />

immunodeficiency, aplastic anemia or lymphohistiocytic disorder<br />

who has a mutation in SH2D1A/SAP/DSHP.<br />

• Probable<br />

Male patient experiencing death, lymphoma/Hodgkins <strong>disease</strong>,<br />

immunodeficiency, aplastic anemia or lymphohistiocytic disorder<br />

following acute EBV infection and maternal cousins, uncles or<br />

nephews with a history of similar diagnoses following acute EBV<br />

infection.<br />

• Possible<br />

Male patient experiencing death, lymphoma/Hodgkin's <strong>disease</strong>,<br />

immunodeficiency, aplastic anemia or lymphohistiocytic disorder<br />

following acute EBV infection.

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