Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.

Pediatric transplantation - 1 Mar 2015

Woźniak Magdalena, Krzywoń Marta, Hołda Mateusz K, Goździk Jolanta

Abstract excerpt

NBS is a rare autosomal recessive congenital disorder associated with chromosome instability caused by a mutation in the NBN gene (8q21). Clinical manifestations include microcephaly, growth retardation, combined immunodeficiency, and a strong predisposition to develop (mainly lymphatic) malignancies. There is no specific treatment for patients with NBS, and the prognosis is generally poor. The therapeutic option...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Aberrations
Share to Cord Blood Stem Cell Transplantation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fetal Blood

Share to Immune System

Share to Immunologic Deficiency Syndromes

Share to Tissue Donors

Share to Transplantation Chimera

Share to Transplantation Conditioning

Source

Identifiers

PMID: 25523867
DOI: 10.1111/petr.12420

Genes

NBN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.PMID 25523867Read ↗

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.Semantic proximity Read ↗

Nijmegen breakage syndrome (NBS)Semantic proximity Read ↗

Nijmegen breakage syndrome.Semantic proximity Read ↗

Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients.Semantic proximity Read ↗

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.Semantic proximity Read ↗

Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen.Semantic proximity Read ↗

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.Semantic proximity Read ↗

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families.Semantic proximity Read ↗

Reduced intensity conditioning regimen with fludarabine, cyclophosphamide, low dose TBI and alemtuzumab leading to successful unrelated umbilical cord stem cell engraftment and survival in two children with dyskeratosis congenita.Semantic proximity Read ↗

Unrelated hematopoietic stem cell transplantation for Cernunnos‐XLF deficiencySemantic proximity Read ↗

Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.Semantic proximity Read ↗

Nijmegen breakage syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.