Nijmegen-Breakage-szindróma

Translated title of the contribution: Nijmegen breakage syndrome

Melinda Erdos, Beáta Tóth, Pálma Juhász, Mohamed Mahdi, László Maródi

Research output: Contribution to journalReview article

2 Citations (Scopus)

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.

Original languageHungarian
Pages (from-to)665-673
Number of pages9
JournalOrvosi hetilap
Volume151
Issue number16
DOIs
Publication statusPublished - Apr 1 2010

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ASJC Scopus subject areas

  • Medicine(all)

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