Nijmegen Breakage Syndrome

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Xu, R. Nijmegen Breakage Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4593 (accessed on 27 September 2026).

Xu R. Nijmegen Breakage Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4593. Accessed September 27, 2026.

Xu, Rita. "Nijmegen Breakage Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4593 (accessed September 27, 2026).

Xu, R. (2020, December 24). Nijmegen Breakage Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4593

Xu, Rita. "Nijmegen Breakage Syndrome." Encyclopedia. Web. 24 December, 2020.

Nijmegen Breakage Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/nijmegen-breakage-syndrome

Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.

genetic conditions

References

Dembowska-Baginska B, Perek D, Brozyna A, Wakulinska A, Olczak-Kowalczyk D,Gladkowska-Dura M, Grajkowska W, Chrzanowska KH. Non-Hodgkin lymphoma (NHL) inchildren with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer. 2009Feb;52(2):186-90. doi: 10.1002/pbc.21789.
Demuth I, Digweed M. The clinical manifestation of a defective response to DNAdouble-strand breaks as exemplified by Nijmegen breakage syndrome. Oncogene. 2007Dec 10;26(56):7792-8. Review.
Pastorczak A, Szczepanski T, Mlynarski W; InternationalBerlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group.Clinical course and therapeutic implications for lymphoid malignancies inNijmegen breakage syndrome. Eur J Med Genet. 2016 Mar;59(3):126-32. doi:10.1016/j.ejmg.2016.01.007.
Pluth JM, Yamazaki V, Cooper BA, Rydberg BE, Kirchgessner CU, Cooper PK. DNAdouble-strand break and chromosomal rejoining defects with misrejoining inNijmegen breakage syndrome cells. DNA Repair (Amst). 2008 Jan 1;7(1):108-18.
Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B,Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S,Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG,Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, DrabkoK, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E; InbornErrors Working Party of the Society for European Blood and Marrow Transplantationand the European Society for Immune Deficiencies. Nijmegen Breakage Syndrome:Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J Clin Immunol. 2015 Aug;35(6):538-49. doi:10.1007/s10875-015-0186-9.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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