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.
journal_name
Orv Hetiljournal_title
Orvosi hetilapauthors
Erdos M,Tóth B,Juhász P,Mahdi M,Maródi Ldoi
10.1556/OH.2010.28851subject
Has Abstractpub_date
2010-04-18 00:00:00pages
665-73issue
16eissn
0030-6002issn
1788-6120pii
APH2876736644545journal_volume
151pub_type
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