Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

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 Immunol

journal_title

Human immunology

authors

van Engelen BG,Hiel JA,Gabreëls FJ,van den Heuvel LP,van Gent DC,Weemaes CM

doi

10.1016/s0198-8859(01)00345-7

subject

Has Abstract

pub_date

2001-12-01 00:00:00

pages

1324-7

issue

12

eissn

0198-8859

issn

1879-1166

pii

S0198-8859(01)00345-7

journal_volume

62

pub_type

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