We present a case of a fatal Epstein-Barr infection in a 17-year-old male patient suspected to be caused by X-linked lymphoproliferative disease. At the time of hospitalization, DNA diagnostics was not available. The suspected diagnosis was confirmed several years later when a SH2D1A missense mutation was identified in stored patient DNA. Extended pedigree analysis showed that this mutation occurred de novo in his mother. In addition, we provide a summary of the currently listed SH2D1A mutations. Conclusion: This case report underlines the importance of DNA storage, pedigree analysis, and multidisciplinary care in patients with rare diseases and their families.

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Keywords DNA storage, Fulminant Epstein-Barr infection, SH2D1A, X-linked lymphoproliferative disease
Persistent URL dx.doi.org/10.1007/s00431-014-2313-7, hdl.handle.net/1765/71748
Journal European Journal of Pediatrics
Overwater, E, Smulders, Y.M, van der Burg, M, Lombardi, M.P, Meijers-Heijboer, E.J, Kuijpers, T.W, & Houweling, A.C. (2014). The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation. European Journal of Pediatrics. doi:10.1007/s00431-014-2313-7