ArticleThe Journal of allergy and clinical immunology2018
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
Article in The Journal of allergy and clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 108 citations in OpenAlex.
- Systematic review of hematopoietic stem cell transplantation in patients with ataxia telangiectasia: a case report and an individual patient-level analysis.Frontiers in immunology · 2026Pooled it
- Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome andFrontiers in immunology · 2020Trial
- Hematopoietic Stem Cell Transplantation Restores Naïve T-Cell Populations inFrontiers in immunology · 2019Trial
- Optimizing Kappa-Deleting Recombination Excision Circles (KREC) Cut-Off Values in Russian Newborn Screening Program: Balancing Sensitivity and False-Positive Rates.International journal of neonatal screening · 2026Article
- Updated EBMT/ESID inborn errors working party guidelines for haematopoietic stem cell transplantation for inborn errors of immunity and metabolism.Bone marrow transplantation · 2026Review
- Early Posttransplant Lymphoproliferative Disorder and Cryptosporidiosis After Liver Transplantation.Case reports in medicine · 2026Article
- Germline Pathogenic Variants in MUTYH Are Associated With Inferior Survival After Hematopoietic Cell Transplantation in Patients With Hematologic Malignancies or Disorders.American journal of hematology · 2025Article
- Expanding the clinical spectrum of Cernunnos/XLF deficiency: a literature review of a rare cause of severe combined immunodeficiency including a novel case.BMC immunology · 2025Review
- Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening.Journal of human immunity · 2025Review
- Review
- Review
- Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.Annals of hematology · 2025Article
- Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond.Journal of clinical immunology · 2025Article
- Targeting CD45 by gene-edited CAR T cells for leukemia eradication and hematopoietic stem cell transplantation preconditioning.Molecular therapy. Oncology · 2024Article
- Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.The Journal of allergy and clinical immunology · 2024Article
- Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.Frontiers in immunology · 2024Article
- Article
- Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.The Journal of allergy and clinical immunology · 2023Article
- Second allogeneic hematopoietic stem cell transplantation in patients with inborn errors of immunity.Bone marrow transplantation · 2023Article
- Personalized hematopoietic stem cell transplantation for inborn errors of immunity.Frontiers in immunology · 2023Review
Corrections and comments
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Authors and funding
55 authors at 20 institutions in 15 countries.
Funding
Abstract
backgroundRare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT).
methodsData from 38 centers worldwide, including indication, donor, conditioning regimen, graft-versus-host disease, and outcome, were analyzed. Conditioning was classified as myeloablative conditioning (MAC) if it contained radiotherapy or alkylators and reduced-intensity conditioning (RIC) if no alkylators and/or 150 mg/m
resultsFifty-five new, 14 updated, and 18 previously published patients were analyzed. Median age at HCT was 48 months (range, 1.5-552 months). Twenty-nine patients underwent transplantation for infection, 21 had malignancy, 13 had bone marrow failure, 13 received pre-emptive transplantation, 5 had multiple indications, and 6 had no information. Twenty-two received MAC, 59 received RIC, and 4 were infused; information was unavailable for 2 patients. Seventy-three of 77 patients with DNA ligase IV deficiency, Cernunnos-XLF deficiency, or Nijmegen breakage syndrome received conditioning. Survival was 53 (69%) of 77 and was worse for those receiving MAC than for those receiving RIC (P = .006). Most deaths occurred early after transplantation, suggesting poor tolerance of conditioning. Survival in patients with AT was 25%. Forty-one (49%) of 83 patients experienced acute GvHD, which was less frequent in those receiving RIC compared with those receiving MAC (26/56 [46%] vs 12/21 [57%], P = .45). Median follow-up was 35 months (range, 2-168 months). No secondary malignancies were reported during 15 years of follow-up. Growth and developmental delay remained after HCT; immune-mediated complications resolved.
conclusionRIC HCT resolves DNA repair disorder-associated immunodeficiency. Long-term follow-up is required for secondary malignancy surveillance. Routine HCT for AT is not recommended.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.