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Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype
BackgroundNijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk...
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Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to malignancies. HSCT...
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Determining the Number of TREC and KREC Copies for Screening of Inborn Errors of Immunity
T-cell receptor excision circles (TRECs) and kappa-deleting recombinant excision circles (KRECs) are circular DNA molecules that are formed in the...
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Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants
PurposeThe MRE11-RAD50-NBN (MRN) complex plays a key role in recognizing and signaling DNA double-strand breaks. Pathogenic variants in NBN and MRE11 ...
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Somatic mosaicism in inherited bone marrow failure and chromosomal instability syndrome
Chromosomal instability syndromes (CIS) show autosomal recessive inheritance patterns and are identified by breakage of the chromosome and...
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Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations
Based on classical karyoty**, structural genome variations (SVs) have generally been considered to be either “simple” (with one or two breakpoints)...
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Navigating therapeutic strategies: HPV classification in head and neck cancer
The World Health Organisation recognised human papillomavirus (HPV) as the cause of multiple cancers, including head and neck cancers. HPV is a...
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Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence
The original version of the article, "Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence” incorrectly listed...
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Inborn Errors of Immunity—the Sri Lankan Experience 2010–2022
PurposeInborn errors of immunity (IEI) are typically monogenic. Data from the Indian subcontinent are relatively scarce. This paper evaluates IEI...
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The Effect of Inactivating Heterozygous Mutation in NBS1 Gene on DNA Damage and Repair Markers and Apoptosis Markers in Mice
We studied the state of the DNA repair system and apoptosis in young mice carrying heterozygous inactivating mutation in the NBS1 gene ( c.1971insT , p.Arg658Stop...
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The threat of programmed DNA damage to neuronal genome integrity and plasticity
The neuronal genome is particularly sensitive to loss or attenuation of DNA repair, and many neurological diseases ensue when DNA repair is impaired....
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The Importance of Monitoring Non-clonal Chromosome Aberrations (NCCAs) in Cancer Research
Cytogenetic analysis has traditionally focused on the clonal chromosome aberrations, or CCAs, and considered the large number of diverse non-clonal...
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Hereditary Breast Cancer Non-CDH1 Associated
Although breast cancer (BC) mainly arises as a sporadic tumor, between 7 and 10% of BC patients present a pathogenic variant (PV) of selected genes....
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DNA Damage and DNA Repair
This chapter describes in more detail the various kinds of DNA damage that can cause mutations and chromosomal alterations as well as the...
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Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero , of poor neurodevelopmental prognosis. This ventricular...
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Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation
PurposeAllogeneic hematopoietic stem cell transplantation (HSCT) is an established therapy for many inborn errors of immunity (IEI). The indications...
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Hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity and Malignancy
The number of inborn errors of immunity (IEI) identified due to monogenic mutations has rapidly increased with the genomic revolution. Affected...