The outcome of haematopoietic stem cell transplantation in a patient with STAT1 gain-of-function: a case report

Toubiana J., Okada S., Hiller J., Oleastro M., Lagos Gomez M., Aldave Becerra J.C., Ouachée-Chardin M., Fouyssac F., Girisha K.M., Etzioni A., Van Montfrans J., Camcioglu Y., Kerns L.A., Belohradsky B., Blanche S., Bousfiha A., Rodriguez-Gallego C., Meyts I., Kisand K., Reichenbach J., Renner E.D., Rosenzweig S., Grimbacher B., van de Veerdonk F.L., Traidl-Hoffmann C., Picard C., Marodi L., Morio T., Kobayashi M., Lilic D., Milner J.D., Holland S., Casanova J.-L., and Puel A. 2016. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood, 127(25): 3154–3164.

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