Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT.
Smith AR., Rota IA., Maio S., Massaad MJ., Lund TC., Notarangelo LD., Holländer GA., Blazar BR.
CDH17 is expressed in human thymic epithelial cells.CDH17 mutations may be a rare cause of leaky severe combined immune deficiency that can be corrected by HSCT.