Identification of novel compound heterozygous LRBA mutations associated with recurrent hemophagocytic lymphohistiocytosis and CNS manifestations

Neilson D.E., Adams M.D., Orr C.M.D., Schelling D.K., Eiben R.M., Kerr D.S., Anderson J., Bassuk A.G., Bye A.M., Childs A-M., Clarke A., Crow Y.J., Rocco M.D., Dohna-Schwake C., Dueckers G., Fasano A.E., Gika A.D., Gionnis D., Gorman M.P., Grattan-Smith P.J., Hackenberg A., Kuster A., Lentschig M.G., Lopez-Laso E., Marco E.J., Mastroyianni S., Perrier J., Schmitt-Mechelke T., Servidei S., Skardoutsou A., Uldall P., der Knaap M.S.V., Goglin K.C., Tefft D.L., Aubin C., de Jager P., Hafler D., and Warman M.L. 2009. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am. J. Hum. Genet. 84(1): 44–51.

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