Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature

• Autors principals: Sarah Schober (Autor), Karin Schilbach (Autor), Michaela Doering (Autor), Karin M. Cabanillas Stanchi (Autor), Ursula Holzer (Autor), Patrick Kasteleiner (Autor), Jens Schittenhelm (Autor), Juergen F. Schaefer (Autor), Ingo Mueller (Autor), Peter Lang (Autor), Rupert Handgretinger (Autor)
• Format: Llibre
• Publicat: BMC, 2019-10-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background DNA ligase IV deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV (LIG4) gene. DNA ligase IV is an essential protein for the development of a healthy immune system as well as for the protection of genomic integrity. Apart from ty...