Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
Toubiana J., Okada S., Hiller J., Oleastro M., Lagos Gomez M., Aldave Becerra JC., Ouachée-Chardin M., Fouyssac F., Girisha KM., Etzioni A., Van Montfrans J., Camcioglu Y., Kerns LA., Belohradsky B., Blanche S., Bousfiha A., Rodriguez-Gallego C., Meyts I., Kisand K., Reichenbach J., Renner ED., Rosenzweig S., Grimbacher B., van de Veerdonk FL., Traidl-Hoffmann C., Picard C., Marodi L., Morio T., Kobayashi M., Lilic D., Milner JD., Holland S., Casanova J-L., Puel A.
Key Points AD STAT1 GOF is the most common genetic cause of inherited CMC and is not restricted to a specific age or ethnic group. STAT1 GOF underlies a variety of infectious and autoimmune features, as well as carcinomas and aneurysms associated with a poor outcome.