Human severe combined immune deficiency and DNA repair.
Human severe combined immune deficiency (SCID) is the most serious inherited immunological deficit. Recent work has revealed defects in the predominant pathway for double-strand break repair called nonhomologous DNA end joining, or NHEJ. Progress in the biochemistry and genetics of NHEJ and of human SCID has proven to be synergistic between these two fields in a manner that covers the range from biochemical etiology to considerations about possible gene therapy for the B- SCID patients.
Department of Transfusion Medicine, University of Ulm, Germany. klaus.schwarz@medizin.uni-ulm.de
Klaus
K
Schwarz
Yunmei
Y
Ma
Ulrich
U
Pannicke
Michael R
MR
Lieber
D000818:Animals; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D004247:DNA / Q000235:genetics / Q000378:metabolism; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000235:genetics / Q000378:metabolism; D004260:DNA Repair; D004268:DNA-Binding Proteins; D004720:Endonucleases; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D011995:Recombination, Genetic; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000276:immunology
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D004247:DNA; C426344:DCLRE1C protein, human; D004720:Endonucleases; D011088:DNA Ligases; D000072481:DNA Ligase ATP