[Nijmegen Breakage syndrome].

Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék, Debrecen.
Orvosi Hetilap 04/2010; 151(16):665-73. DOI: 10.1556/OH.2010.28851
Source: PubMed

ABSTRACT Nijmegen Breakage syndrome is a rare, autosomal recessive disorder characterized by severe, combined immunodeficiency, recurrent sinopulmonary infections, chromosomal instability, radiosensitivity, predisposition to malignancy, a "bird-like" facial appearance, progressive microcephaly, short stature, and mental retardation. The syndrome is caused by mutations in the NBS1 gene, which encodes a DNA-repair protein, named nibrin. The authors summarize current knowledge on molecular genetics, diagnostic characteristics and therapeutic options of this inborn error of innate immunity.

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