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

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

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...

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Bibliographic Details
Main Authors: Sarah Schober, Karin Schilbach, Michaela Doering, Karin M. Cabanillas Stanchi, Ursula Holzer, Patrick Kasteleiner, Jens Schittenhelm, Juergen F. Schaefer, Ingo Mueller, Peter Lang, Rupert Handgretinger
Format: Article
Language:English
Published: BMC 2019-10-01
Series:BMC Pediatrics
Subjects:
DNA ligase IV deficiency
LIG4
Severe combined immunodeficiency
SCID
Steroid-refractory graft-versus-host disease
GvHD
Online Access:http://link.springer.com/article/10.1186/s12887-019-1724-z

Internet

http://link.springer.com/article/10.1186/s12887-019-1724-z

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