Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

D Sperl, M Benesch, C Urban, H Lackner, P Sovinz, M R Speicher, S Uhrig, T Schwarzbraun, W Schwinger, U zur Stadt, K Beutel, G Janka, M Scarpatetti, M G Seidel

Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria. daniela.sperl@medunigraz.at

Klinische Pädiatrie 2012 Oct

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Two related boys who died from fulminant infectious mononucleosis were diagnosed with X-linked lymphoproliferative disease type 1 (XLP-1). Family screening (n=17) identified 6 female mutation carriers and 2 more XLP-1 patients in whom, despite recurrent infections, agammaglobulinemia, and Hodgkin's Disease, the genetic basis had been unknown; demonstrating that awareness and early genetic testing are crucial to reveal underlying primary immunodeficiencies and improve outcome. Furthermore, XLP should be included routinely in the differential diagnosis of severe hypogammaglobulinemia and/or lymphoma in males. © Georg Thieme Verlag KG Stuttgart · New York.

Citation

D Sperl, M Benesch, C Urban, H Lackner, P Sovinz, M R Speicher, S Uhrig, T Schwarzbraun, W Schwinger, U zur Stadt, K Beutel, G Janka, M Scarpatetti, M G Seidel. Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives. Klinische Pädiatrie. 2012 Oct;224(6):386-9