{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:35:27Z","timestamp":1787063727672,"version":"build-2736575974"},"reference-count":10,"publisher":"Termedia Sp. z.o.o.","issue":"4","license":[{"start":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T00:00:00Z","timestamp":1611964800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T00:00:00Z","timestamp":1611964800000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"},{"start":{"date-parts":[[2021,1,30]],"date-time":"2021-01-30T00:00:00Z","timestamp":1611964800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cent Eur J Immunol"],"abstract":"<jats:p>Nijmegen breakage syndrome (NBS) is a\u00a0rare autosomal recessive disorder, characterized by spontaneous chromosomal instability with predisposition to immunodeficiency and cancer. &lt;br \/&gt;\nWe present a\u00a0repeated NBS in two sons from one woman after two marriages. We describe the clinical data, cytogenetic, and molecular findings of a\u00a0prenatally diagnosed fetus, and his brothers with NBS. The first patient developed peripheral T-cell lymphoma at the age of 16 years and died 5 months after the protocol start. The diagnosis of NBS was established after his death. The second patient was born after the fifth pregnancy, third delivery in the second marriage; he developed cortical T-cell leukemia at the age of 3 years, received hematopoietic stem cells transplantation (HSCT) and he is alive now. In a\u00a0year after repeated NBS case in this family, mother became pregnant again and the mutation was detected in the male fetus after the prenatal diagnosis; the pregnancy was aborted. At the age of 41 years, mother\u2019s seventh pregnancy finished by miscarriage. In three months, she was pregnant again, only one mutation in NBN gene was detected during the prenatal diagnostics in the female fetus; healthy female was born at term. &lt;br \/&gt;\nTo our knowledge, this is the first time to describe the repeated cases of two patients born with Nijmegen breakage syndrome from one mother and two different fathers. This case highlights the value of checking NBN carrier in Belarusian families during genetic counselling.<\/jats:p>","DOI":"10.5114\/ceji.2020.103387","type":"journal-article","created":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T16:32:16Z","timestamp":1615912336000},"page":"507-510","source":"Crossref","is-referenced-by-count":3,"title":["Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia"],"prefix":"10.5114","volume":"45","author":[{"given":"Svetlana O.","family":"Sharapova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena I.","family":"Golovataya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena V.","family":"Shepelevich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuliya E.","family":"Mareika","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina E.","family":"Guryanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria V.","family":"Stegantseva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga V.","family":"Aleinikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3061","published-online":{"date-parts":[[2021,1,30]]},"reference":[{"key":"ref-1544929","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/j.1651-2227.1981.tb05740.x","article-title":"A new chromosomal instability disorder: the Nijmegen breakage syndrome","volume":"70","author":"Weemaes CM","year":"1981","unstructured":"Weemaes CM, Hustinx TW, Scheres JM, et al. (1981): A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paed Scand 70: 557-564.","journal-title":"Acta Paed Scand"},{"key":"ref-1544930","doi-asserted-by":"crossref","first-page":"1207","DOI":"10.1016\/j.dnarep.2004.03.004","article-title":"Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks","volume":"3","author":"Digweed M","year":"2004","unstructured":"Digweed M, Sperling K (2004): Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair 3: 1207-1217.","journal-title":"DNA Repair"},{"key":"ref-1544931","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/978-0-387-72005-0_6","article-title":"Nijmegen breakage syndrome","volume":"601","author":"Kondratenko I","year":"2007","unstructured":"Kondratenko I, Paschenko O, Polyakov A, Bologov A (2007): Nijmegen breakage syndrome. 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Eur J Hum Gen 8: 900-902.","journal-title":"Eur J Hum Gen"},{"key":"ref-1544934","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1007\/s10875-015-0186-9","article-title":"Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options\u2013a retrospective analysis","volume":"35","author":"Wolska-Kusnierz B","year":"2015","unstructured":"Wolska-Kusnierz B, Gregorek H, Chrzanowska K, et al. (2015): Nijmegen breakage syndrome: clinical and immunological features, long-term outcome and treatment options\u2013a retrospective analysis. J Clin Immunol 35: 538-549.","journal-title":"J Clin Immunol"},{"key":"ref-1544935","doi-asserted-by":"crossref","first-page":"807","DOI":"10.3389\/fimmu.2017.00807","article-title":"Prospective study of a cohort of Russian Nijmegen breakage syndrome patients demonstrating predictive value of low kappa-deleting recombination excision circle (KREC) numbers and beneficial effect of hematopoietic stem cell transplantation (HSCT)","volume":"8","author":"Deripapa E","year":"2017","unstructured":"Deripapa E, Balashov D, Rodina Y, et al. (2017): Prospective study of a cohort of Russian Nijmegen breakage syndrome patients demonstrating predictive value of low kappa-deleting recombination excision circle (KREC) numbers and beneficial effect of hematopoietic stem cell transplantation (HSCT). 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(1997): A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity. J Med Gen 34: 196-202.","journal-title":"J Med Gen"},{"key":"ref-1544938","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1182\/blood.V67.5.1251.1251","article-title":"A chromosomal breakage syndrome with profound immunodeficiency","volume":"67","author":"Conley ME","year":"1986","unstructured":"Conley ME, Spinner NB, Emanuel BS, et al. (1986): A chromosomal breakage syndrome with profound immunodeficiency. Blood 67: 1251-1256.","journal-title":"Blood"}],"container-title":["Central European Journal of Immunology"],"original-title":[],"link":[{"URL":"https:\/\/ceji.termedia.pl\/pdf-105897-129756","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ceji.termedia.pl\/pdf-105897-129756","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T08:36:27Z","timestamp":1767947787000},"score":1,"resource":{"primary":{"URL":"https:\/\/ceji.termedia.pl\/Nijmegen-breakage-syndrome-in-two-half-sibs-with-peripheral-T-cell-lymphoma-and-cortical,105897,0,2.html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,30]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020]]}},"alternative-id":["105897"],"URL":"https:\/\/doi.org\/10.5114\/ceji.2020.103387","relation":{},"ISSN":["1426-3912","1644-4124"],"issn-type":[{"value":"1426-3912","type":"print"},{"value":"1644-4124","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,30]]}}}