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