Omenn syndrome is associated with mutations in DNA ligase IV

[...]we demonstrate here that patients with mutations in DNA ligase IV can present with features of OS.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of allergy and clinical immunology 2008-12, Vol.122 (6), p.1219-1220
Hauptverfasser:	Grunebaum, Eyal, MD, Bates, Andrea, BSc, Roifman, Chaim M., MD, FRCPC
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Allergy and Immunology Bone marrow Bone Marrow Transplantation DNA Ligase ATP DNA Ligases - genetics DNA repair Female Frameshift Mutation Graft vs Host Disease - blood Graft vs Host Disease - drug therapy Graft vs Host Disease - genetics Graft vs Host Disease - immunology Humans Immune system Infant, Newborn Kinases Male Mutation Polymorphism, Single Nucleotide Remission Induction Severe Combined Immunodeficiency - blood Severe Combined Immunodeficiency - genetics Severe Combined Immunodeficiency - immunology Severe Combined Immunodeficiency - therapy T cell receptors Transplantation, Homologous
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Beschreibung
Zusammenfassung:	[...]we demonstrate here that patients with mutations in DNA ligase IV can present with features of OS.
ISSN:	0091-6749 1097-6825
DOI:	10.1016/j.jaci.2008.08.031