Research & Literature

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

Patel JP, Puck JM, Srinivasan R, et al.

Journal of clinical immunology 2015; (35(2)):227-33 doi:10.1007/s10875-015-0136-6.

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Salewsky B, Hildebrand G, Rothe S, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2016; (24(1)):117-24 doi:10.1038/mt.2015.144.

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, et al.

Journal of clinical immunology 2015; (35(6)):538-49 doi:10.1007/s10875-015-0186-9.

Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.

Saito Y, Komatsu K

Biomolecules 2015; (5(3)):1990-2002 doi:10.3390/biom5031990.

ATM-Dependent Phosphorylation of All Three Members of the MRN Complex: From Sensor to Adaptor.

Lavin MF, Kozlov S, Gatei M, Kijas AW

Biomolecules 2015; (5(4)):2877-902 doi:10.3390/biom5042877.

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.

Pastorczak A, Szczepanski T, Mlynarski W,

European journal of medical genetics 2016; (59(3)):126-32.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases.

Krabbenborg L, Vissers LE, Schieving J, et al.

Journal of genetic counseling 2016; (25(6)):1207-1214 doi:10.1007/s10897-016-9958-5.

T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.

Kocheva SA, Martinova K, Antevska-Trajkova Z, et al.

Balkan journal of medical genetics : BJMG 2016; (19(1)):91-94 doi:10.1515/bjmg-2016-0012.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Seemanova E, Varon R, Vejvalka J, et al.

PloS one 2016; (11(12)):e0167984 doi:10.1371/journal.pone.0167984.

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

Meijers RWJ, Dzierzanowska-Fangrat K, Zborowska M, et al.

Journal of clinical immunology 2017; (37(2)):133-142 doi:10.1007/s10875-016-0363-5.

Effect of irradiation on DNA synthesis, NBN gene expression and chromosomal stability in cells with NBN mutations.

Nowak J, Świątek-Kościelna B, Kałużna EM, et al.

Archives of medical science : AMS 2017; (13(2)):283-292 doi:10.5114/aoms.2017.65452.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

Slack J, Albert MH, Balashov D, et al.

The Journal of allergy and clinical immunology 2018; (141(1)):322-328.e10 doi:10.1016/j.jaci.2017.02.036.

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Walsh MF, Chang VY, Kohlmann WK, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2017; (23(11)):e23-e31 doi:10.1158/1078-0432.CCR-17-0465.

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).

Deripapa E, Balashov D, Rodina Y, et al.

Frontiers in immunology 2017; (8()):807 doi:10.3389/fimmu.2017.00807.

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Habib R, Neitzel H, Ernst A, et al.

Molecular cytogenetics 2018; (11()):17 doi:10.1186/s13039-018-0364-6.

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.

Cousin MA, Smith MJ, Sigafoos AN, et al.

Journal of clinical immunology 2018; (38(3)):307-319 doi:10.1007/s10875-018-0499-6.

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.

Berland A, Rosain J, Kaltenbach S, et al.

The Journal of allergy and clinical immunology 2019; (143(1)):325-334.e2 doi:10.1016/j.jaci.2018.05.028.

Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas.

Marczak H, Heropolitańska-Pliszka E, Langfort R, et al.

Pediatrics 2018; (142(4)) doi:10.1542/peds.2018-0122.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

Buchbinder D, Hauck F, Albert MH, et al.

Journal of clinical immunology 2019; (39(1)):81-89 doi:10.1007/s10875-018-0581-0.

NBS1 promotes the endonuclease activity of the MRE11-RAD50 complex by sensing CtIP phosphorylation.

Anand R, Jasrotia A, Bundschuh D, et al.

The EMBO journal 2019; (38(7)) doi:10.15252/embj.2018101005.

Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.

Martin-Rodriguez S, Calvo-Ferrer A, Ortega-Unanue N, et al.

Annals of human genetics 2019; (83(4)):266-273 doi:10.1111/ahg.12312.

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

Szeliga A, Zysnarska A, Szklarska Z, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019; (35(11)):999-1002 doi:10.1080/09513590.2019.1626366.

Chromosome instability syndromes.

Taylor AMR, Rothblum-Oviatt C, Ellis NA, et al.

Nature reviews. Disease primers 2019; (5(1)):64 doi:10.1038/s41572-019-0113-0.

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

Fiévet A, Bellanger D, Zahed L, et al.

Human mutation 2020; (41(3)):608-618 doi:10.1002/humu.23955.

Hematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders.

Wolska-Kuśnierz B, Gennery AR

Frontiers in pediatrics 2019; (7()):557 doi:10.3389/fped.2019.00557.

Human RAD50 deficiency: Confirmation of a distinctive phenotype.

Ragamin A, Yigit G, Bousset K, et al.

American journal of medical genetics. Part A 2020; (182(6)):1378-1386 doi:10.1002/ajmg.a.61570.

Nijmegen breakage syndrome: case report and review of literature.

Hasbaoui BE, Elyajouri A, Abilkassem R, Agadr A

The Pan African medical journal 2020; (35()):85 doi:10.11604/pamj.2020.35.85.14746.

Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

Laberko A, Sultanova E, Gutovskaya E, et al.

Journal of clinical immunology 2020; (40(6)):861-871 doi:10.1007/s10875-020-00811-9.

T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway.

Piatosa B, Wolska-Kuśnierz B, Tkaczyk K, et al.

Frontiers in immunology 2020; (11()):1319 doi:10.3389/fimmu.2020.01319.

Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.

Wolska-Kusnierz B, Pastorczak A, Fendler W, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2021; (27(2)):575-584 doi:10.1158/1078-0432.CCR-20-2574.

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.

Sharma R, Lewis S, Wlodarski MW

Frontiers in pediatrics 2020; (8()):570084 doi:10.3389/fped.2020.570084.

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer Cells.

McPherson MT, Holub AS, Husbands AY, Petreaca RC

Cancers 2020; (12(12)) doi:10.3390/cancers12123794.

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.

Sharapova SO, Pashchenko OE, Bondarenko AV, et al.

Frontiers in immunology 2020; (11()):602482 doi:10.3389/fimmu.2020.602482.

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism

Krawczyk MA, Styczewska M, Birkholz-Walerzak D, et al.

Journal of clinical research in pediatric endocrinology 2022; (14(2)):251-257 doi:10.4274/jcrpe.galenos.2021.2021.0151.

Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?

Lee W, Luca S, Costain G, et al.

Journal of genetic counseling 2022; (31(2)):523-533 doi:10.1002/jgc4.1522.

Structure of the human ATM kinase and mechanism of Nbs1 binding.

Warren C, Pavletich NP

eLife 2022; (11()).

Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids.

Martins S, Erichsen L, Datsi A, et al.

Cells 2022; (11(5)) doi:10.3390/cells11050802.

Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders.

Pastorczak A, Attarbaschi A, Bomken S, et al.

Cancers 2022; (14(8)) doi:10.3390/cancers14082000.

Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies.

Filipiuk A, Kozakiewicz A, Kośmider K, et al.

Annals of agricultural and environmental medicine : AAEM 2022; (29(2)):207-214 doi:10.26444/aaem/143541.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.

Otahalova B, Volkova Z, Soukupova J, et al.

International journal of molecular sciences 2023; (24(6)) doi:10.3390/ijms24065612.

A rare case of primary gastric Hodgkin lymphoma in an adolescent with Nijmegen breakage syndrome.

Batiuk E, Bassett M, Hakar M, et al.

BMC pediatrics 2023; (23(1)):189 doi:10.1186/s12887-023-03929-y.

Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies.

Nevin SM, Wakefield CE, Dadich A, et al.

PEC innovation 2022; (1()):100014 doi:10.1016/j.pecinn.2021.100014.

Suppression of NBS1 Upregulates CyclinB to Induce Olaparib Sensitivity in Ovarian Cancer.

Zhong A, Cheng CS, Lu RQ, Guo L

Technology in cancer research & treatment 2024; (23()):15330338231212085 doi:10.1177/15330338231212085.

Xrs2/NBS1 promote end-bridging activity of the MRE11-RAD50 complex.

Möller C, Sharma R, Öz R, et al.

Biochemical and biophysical research communications 2024; (695()):149464 doi:10.1016/j.bbrc.2023.149464.

Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.

Cakmak Genc G, Yilmaz B, Karakas Celik S, et al.

Birth defects research 2024; (116(5)):e2346 doi:10.1002/bdr2.2346.

Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

Boyarchuk O, Kostyuchenko L, Akopyan H, et al.

Frontiers in immunology 2024; (15()):1428724 doi:10.3389/fimmu.2024.1428724.

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

Nakano Y, Kuiper RP, Nichols KE, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(22)):5009-5020 doi:10.1158/1078-0432.CCR-24-1098.

"Crying in the Wilderness"-The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis.

Pearce EE, Majid A, Brown T, et al.

JMIR formative research 2024; (8()):e64343 doi:10.2196/64343.

Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.

Gangal SK, Sezer A, Yazici O, Erdem HB

American journal of medical genetics. Part A 2025; (197(11)):e64170 doi:10.1002/ajmg.a.64170.

Parental Experiences of Receiving a Rare Genetic Disease Diagnosis for Their Child on Diagnosis Day.

Bullock I, Malone KF, Turnwald A

American journal of medical genetics. Part A 2026; (200(1)):67-76 doi:10.1002/ajmg.a.64223.

Structural basis for DNA break sensing by human MRE11-RAD50-NBS1 and its regulation by telomeric factor TRF2.

Fan Y, Kuybu F, Cui H, et al.

Nature communications 2025; (16(1)):8320 doi:10.1038/s41467-025-64082-x.

Social Media Use Among Parents and Caregivers of Children With Rare Genetic Diseases: Scoping Review.

Davis C, Bogaert L, Powell J, Low K

Journal of medical Internet research 2025; (27()):e77087 doi:10.2196/77087.

Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.

Abouhala S, Del Rosario MC, Holm IA, Wojcik MH

Genetics in medicine open 2026; (4()):103490 doi:10.1016/j.gimo.2025.103490.

Caregiver quality of life and burden in rare genetic diseases in South Korea.

Choi S, Kim JH, Kim GH, et al.

Medicine 2026; (105(11)):e48006 doi:10.1097/MD.0000000000048006.

Generation of NBS1 knockout in Chinese hamster cells revealed ATR role for radiation and etoposide induced DNA damage in absence of NBS1 proteins.

Badakul G, Maeda J, Kato TA

Frontiers in oncology 2026; (16()):1776137 doi:10.3389/fonc.2026.1776137.

Derivation of homozygous Nijmegen breakage syndrome induced pluripotent stem cell line (MUNIi019-A).

Beckerová D, Satkova M, Polachova A, et al.

Stem cell research 2026; (94()):104001 doi:10.1016/j.scr.2026.104001.

Adulthood diagnosis of Nijmegen breakage syndrome in twins with antibody deficiency clinical presentation.

González MAM, Rodríguez-Sainz C, Cardenas PP, et al.

Clinical immunology (Orlando, Fla.) 2026; (286()):110732 doi:10.1016/j.clim.2026.110732.