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Nijmegen breakage syndrome.
I van der Burgt, K H Chrzanowska, D Smeets, C Weemaes,
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.
Journal of medical genetics - Feb 1996
Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair.
Archives of disease in childhood - May 2000
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
Beata Wolska-Kuśnierz, Hanna Gregorek, Krystyna Chrzanowska, Barbara Piątosa, Barbara Pietrucha, Edyta Heropolitańska-Pliszka, Małgorzata Pac, Maja Klaudel-Dreszler, Larysa Kostyuchenko, Srdjan Pasic, Laszlo Marodi, Bernd H Belohradsky, Peter Čižnár, Anna Shcherbina, Sara Sebnem Kilic, Ulrich Baumann, Markus G Seidel, Andrew R Gennery, Małgorzata Syczewska, Bożena Mikołuć, Krzysztof Kałwak, Jan Styczyński, Anna Pieczonka, Katarzyna Drabko, Anna Wakulińska, Benjamin Gathmann, Michael H Albert, Urszula Skarżyńska, Ewa Bernatowska, ,
Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to assess whether any parameters were useful in disease prognosis, and could help determine patients qualified for hematopoietic stem cell transplantation.
Journal of clinical immunology - Aug 2015