Abstract:
: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.
journal_name
Hum Immunoljournal_title
Human immunologyauthors
van Engelen BG,Hiel JA,Gabreëls FJ,van den Heuvel LP,van Gent DC,Weemaes CMdoi
10.1016/s0198-8859(01)00345-7subject
Has Abstractpub_date
2001-12-01 00:00:00pages
1324-7issue
12eissn
0198-8859issn
1879-1166pii
S0198-8859(01)00345-7journal_volume
62pub_type
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