Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.
SourceHuman Immunology, 62, 12, (2001), pp. 1324-1327
Article / Letter to editor
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SubjectInborn errors of metabolism; Pediatric Oncology. Treatment of children with cancer.; Neuromuscular and neurometabolic disorders; Disturbances in biochemical and functional development of the kidney during childhood.; Erfelijke stofwisselingsziekten; Kinderoncologie. Behandeling van kinderen met kanker.; Neuromusculaire en neurometabole aandoeningen; Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd
Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome associated with defective DNA repair. Approximately 90% of NBS patients are homozygous for a truncating mutation of the NBS1 gene. As development of the immune system relies on recombination, which involves repair of DNA breaks, one might predict that mutations in the NBS1 gene could cause immunodeficiency. We immunologically investigated the world's largest series of NBS patients (n = 74), confirmed immunodeficiency, and found a discrepancy between relatively normal IgM concentrations, and decreased IgG and IgA concentrations. In addition, a significant relation between low IgA and low IgG levels was found. These data are compatible with a defective class switching in NBS and can be explained by a role of the NBS1 protein in DNA repair, signal transduction, cell cycle regulation or apoptosis.
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