[Nijmegen Breakage syndrome].
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.
Erdos
Melinda
M
Debreceni Egyetem, Orvos- és Egészségtudományi Centrum Infektológiai és Gyermekimmunológiai Tanszék, Debrecen. melinda.erdos@yahoo.com
Tóth
Beáta
B
Juhász
Pálma
P
Mahdi
Mohamed
M
Maródi
László
L
D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics*; D049932:Nijmegen Breakage Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics* / Q000276:immunology / Q000503:physiopathology / Q000628:therapy; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA
D015415:Biomarkers; D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins