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.
Publication types
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Case Reports
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English Abstract
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Review
MeSH terms
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Adolescent
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Biomarkers / blood
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Cell Cycle Proteins / genetics*
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Child
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Diagnosis, Differential
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Female
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Humans
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Immunity, Innate / genetics*
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Nijmegen Breakage Syndrome / blood
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Nijmegen Breakage Syndrome / diagnosis*
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Nijmegen Breakage Syndrome / genetics*
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Nijmegen Breakage Syndrome / immunology
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Nijmegen Breakage Syndrome / physiopathology
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Nijmegen Breakage Syndrome / therapy
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Nuclear Proteins / genetics*
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Pedigree
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Sequence Analysis, DNA
Substances
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Biomarkers
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Cell Cycle Proteins
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NBN protein, human
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Nuclear Proteins