Evidence map›Paper›PMID 41765109›Full record

ArticleThe Journal of allergy and clinical immunology2026

Allogeneic hematopoietic cell transplantation for partial RAG deficiency in children and adults: Excellent outcomes with a reduced-intensity posttransplantation cyclophosphamide-based approach.

Dimana Dimitrova, Marita Bosticardo, Ottavia M Delmonte, Heather Kenney, Annie An, Francesca Pala, Gloria Magro, Katherine Myint-Hpu, Esther Kang, Enrico Santangeli and 26 more

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Article in The Journal of allergy and clinical immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

36 authors.

Dimana DimitrovaCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md. Electronic address: Dimana.dimitrova@nih.gov.
Marita BosticardoLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Ottavia M DelmonteLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Heather KenneyLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Annie AnLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Francesca PalaLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Gloria MagroLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Katherine Myint-HpuLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Esther KangLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Enrico SantangeliLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Angelina AngelovaBioinformatics and Computational Biosciences Branch, NIAID, NIH, Bethesda, Md.
Ivan Vujkovic-CvijinF. Widjaja Inflammatory Bowel Disease Institute, Cedars-Sinai Medical Center, Los Angeles, Calif.
Benjamin SchwarzResearch and Technologies Branch, NIAID, NIH, Bethesda, Md.
Jessenia CamposCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Amy ChaiCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Alison CusmanoCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Francis A FlomerfeltClinical Research Correlatives Core, Laboratory of Pathology, CCR, NCI, NIH, Bethesda, Md.
Mustafa A HyderCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Ralph MangusanCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Kamil RechacheCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Ruby SabinaCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
William TelfordClinical Research Correlatives Core, Laboratory of Pathology, CCR, NCI, NIH, Bethesda, Md.
Heidi H KongCutaneous Microbiome and Inflammation Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Bethesda, Md.
Keisuke NagaoCutaneous Leukocyte Biology Section, NIAMS, Bethesda, Md.
Anahita AgharahimiLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Jenna R E BergersonLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Alexandra F FreemanLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Steven M HollandLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Hanadys AleDivision of Immunology, Allergy and Rheumatology, Joe DiMaggio Children's Hospital, Memorial Healthcare System, Hollywood, Fla.
Aisha El-MarsafyDepartment of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Srdjan PasicDepartment of Pediatric Immunology, Mother and Child Health Institute, Medical Faculty, University of Belgrade, Belgrade, Serbia.
James VerbskyDivision of Rheumatology, Department of Pediatrics, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wis.
Jolan WalterDivision of Pediatric Allergy/Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St Petersburg, Fla.
Christopher G KanakryCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Md.
Jennifer A KanakryCenter for Immuno-Oncology, Center for Cancer Research (CCR), National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, Md.

Funding

Intramural NIH HHS Z99 CA999999
6 · The paper itself

Abstract

backgroundPartial recombinase activating gene deficiency (pRD) leads to combined immunodeficiency with immune dysregulation. It can be cured by allogeneic hematopoietic cell transplantation (HCT), but optimal referral criteria and approaches remain to be defined.

objectiveOur study evaluated low-toxicity approaches to HCT for pRD.

methodsThirteen children and adults with pRD received radiation-free, predominantly reduced-intensity conditioning (pentostatin/cyclophosphamide/busulfan) HCT with posttransplantation cyclophosphamide-based graft-versus-host disease (GVHD) prophylaxis at median (range) age 20 (4-46) years.

resultsWith median 2.6 years' follow-up, overall survival for the entire cohort was estimated at 92% and 83% at 1 and 2 years and 100% and 90% for reduced-intensity conditioning recipients (n = 12), with 2 deaths attributed to sepsis. Reversal of clinical manifestations was associated with immune reconstitution, with minimal de novo autoimmunity, 15% 1-year cumulative incidence of grade III-IV acute GVHD, and no chronic GVHD. Vα7.2-positive T-cell proportion increased rapidly after HCT, while mucosa-associated invariant T-cell reconstitution lagged. Dysreactive CD19

conclusionReduced-intensity conditioning HCT with posttransplantation cyclophosphamide-based GVHD prophylaxis is safe and effectively reverses immune dysfunction in patients with pRD.

Indexed as

CyclophosphamideGraft vs Host DiseaseHematopoietic Stem Cell TransplantationHomeodomain ProteinsImmunologic Deficiency SyndromesImmunosuppressive AgentsTransplantation ConditioningAdolescentAdultChildChild, PreschoolFemaleHumansMaleMiddle AgedTransplantation, HomologousCyclophosphamideHomeodomain ProteinsImmunosuppressive AgentsRAG-1 proteincombined immunodeficiencyimmune dysregulationpartial RAG deficiencyposttransplantation cyclophosphamidereduced intensity conditioning

Identifiers

PMID41765109
PMCPMC13435211

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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.