209
Views
4
CrossRef citations to date
0
Altmetric
POI IN NIJMEGEN BREAKAGE SYNDROME PATIENT: FROM GENE MUTATION TO CLINICAL MANAGEMENT

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management

, , , , , , , & show all
Pages 999-1002 | Received 21 Aug 2018, Accepted 29 May 2019, Published online: 12 Jun 2019

References

  • Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, et al. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis. 2012;7:13.
  • Weemaes CM, Hustinx TW, Scheres JM, et al. A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand. 1981;70:557–564.
  • Kostyuchenko L, Makuch H, Kitsera N, et al. Clinical immunology. Nijmegen breakage syndrome in Ukraine: diagnostics and follow-up. Vol. 34. Poland: Polish Society for Immunology; 2009.
  • The International Nijmegen Breakage Syndrome Study Group. Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group. Arch Dis Child. 2000;82:400–406.
  • Chrzanowska KH, Szarras-Czapnik M, Gajdulewicz M, et al. High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study. J Clin Endocrinol Metab. 2010;95:3133–3140.
  • Podfigurna-Stopa A, Czyzyk A, Grymowicz M, et al. Premature ovarian insufficiency: the context of long-term effects. J Endocrinol Invest. 2016;39:983–990.
  • Meczekalski B, Podfigurna-Stopa A. Genetics of premature ovarian failure. Minerva Endocrinol. 2010;35:195–209.
  • Maclaran K, Panay N. Current concepts in premature ovarian insufficiency. Womens Health (Lond Engl). 2015;11:169–182.
  • Meyer S, Kingston H, Taylor AMR, et al. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. Cancer Genet Cytogenet. 2004;154:169–174.
  • Iwase A, Nakamura T, Osuka S, et al. Anti-Müllerian hormone as a marker of ovarian reserve: what have we learned, and what should we know? Reprod Med Biol. 2016;15:127–136.
  • Difilippantonio S, Celeste A, Fernandez-Capetillo O, et al. Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models. Nat Cell Biol. 2005;7:675–685.
  • Bürger S, Schindler D, Fehn M, et al. Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay. Environ Mol Mutagen. 2006;47:260–270.
  • Shapiro RS. Malignancies in the setting of primary immunodeficiency: implications for hematologists/oncologists. Am J Hematol. 2011;86:48–55.
  • Seidemann K, Henze G, Beck JD, et al. Non-Hodgkin’s lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): experience from the BFM trials. Ann Oncol Off J Eur Soc Med Oncol. 2000;11(Suppl 1):141–145.
  • Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, et al. Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options – a retrospective analysis. J Clin Immunol. 2015;35:538–549.
  • Green AJ, Yates JR, Taylor AM, et al. Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome. Arch Dis Child. 1995;73:431–434.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.