Omenn syndrome is associated with mutations in DNA ligase IV.
Eyal
E
Grunebaum
Andrea
A
Bates
Chaim M
CM
Roifman
D000328:Adult; D016026:Bone Marrow Transplantation; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006086:Graft vs Host Disease / Q000097:blood / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012074:Remission Induction; D016511:Severe Combined Immunodeficiency / Q000097:blood / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D014184:Transplantation, Homologous
C000607893:LIG4 protein, human; D011088:DNA Ligases; D000072481:DNA Ligase ATP