Evidence map›Paper›PMID 40739694›Full record

ArticleTransplantation2026

Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival.

Morgan N Similuk, Sarah A Bannon, Jia Yan, Rajarshi Ghosh, Ekaterina E Damskey, Breanna J Beers, Halyn Orellana, Sophie Byers, Sruthi Srinivasan, Michael J Kamen and 36 more

Abstract read
In one paragraph

Article in Transplantation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

1 citing paper in PubMed.

  1. Article
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

46 authors.

Morgan N SimilukDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Sarah A BannonDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Jia YanDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Rajarshi GhoshDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Ekaterina E DamskeyDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Breanna J BeersDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Halyn OrellanaDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Sophie ByersDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Sruthi SrinivasanDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Michael J KamenDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Colleen JodarskiDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Rachel G MosesDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Nadjalisse C Reynolds-LallementDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Katie L LewisDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Bryce A SeifertDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Mari J TokitaDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Justin B LackNIAID Collaborative Bioinformatics Resource (NCBR), National Cancer Institute, National Institutes of Health, Bethesda, MD.
Wenjia CaoNIAID Collaborative Bioinformatics Resource (NCBR), National Cancer Institute, National Institutes of Health, Bethesda, MD.
Tristan M SissungGenitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
William D FiggGenitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Dimana DimitrovaCenter for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Jennifer A KanakryCenter for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Dennis D HicksteinImmune Deficiency Cellular Therapy Program, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Nirali N ShahPediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Corina E GonzalezImmune Deficiency Cellular Therapy Program, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Thomas E HughesClinical Center Pharmacy Department, National Institutes of Health, Bethesda, MD.
Christa S ZerbeDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Helen C SuDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Alexandra F FreemanDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Gulbu UzelDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Suk See De RavinDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Elizabeth M KangDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Harry L MalechDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
V Koneti RaoDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Andrea LiscoDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Ivan J FussDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Jeffrey I CohenDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Jessica R Durkee-ShockDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Ottavia M DelmonteDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Jenna R E BergersonDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Jennifer J JohnstonCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Leslie G BieseckerCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Taco W KuijpersDepartment of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Luigi D NotarangeloDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Steven M HollandDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Magdalena A WalkiewiczDivision of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.

Funding

Intramural NIH HHS Z99 AI999999
6 · The paper itself

Abstract

backgroundHematopoietic cell transplantation (HCT) provides effective long-term management for some inborn errors of immunity. Genetic findings can inform donor selection, considerations in conditioning intensity and agents, and graft-versus-host disease prophylaxis. Exome/genome sequencing is increasingly accessible but of uncertain clinical utility. We aimed to evaluate the clinical utility of comprehensive genomic evaluations through review of HCT at our center.

methodsWe performed exome/genome sequencing on pre-HCT samples from participants between 2017 and 2023. We reported primary findings (PF) and secondary findings (SF). Post hoc, we analyzed medication and pharmacogenetic (PGx) data.

resultsWe analyzed pre-HCT exome/genome sequencing (n = 84 exome, n = 63 genome, n = 32 with both) for 179 probands. Most (143/179; 79.9%) had a PF underlying the HCT indication, with GATA2 being most common (n = 59). Three percent of participants had an SF predisposing to cancer or cardiovascular disease. Most (n = 108/179; 60.3%) received ≥1 medication(s) that may have been further optimized with PGx. Using Kaplan-Meier survival analysis, we compared the survival rates of participants with 0, 1, and ≥2 genomic risk factors (GRF: absence of PF; presence of SF or PGx). Survival at 3 y was 94.8%, 84.8%, and 58.5% for those with 0, 1, and ≥2 GRF, respectively (log-rank: 16.10, df = 2, P  = 0.0003), indicating statistically significant survival differences by GRF.

conclusionsComprehensive genomic evaluation is an emerging avenue for tailoring HCT approaches, and identification of HCT-relevant findings may be common. On multivariate analysis, GRF was associated with survival in this retrospective cohort. Prospective research is warranted to further integrate genomic data into precision treatment.

Indexed as

Hematopoietic Stem Cell TransplantationImmune System DiseasesPrecision MedicineAdolescentAdultChildChild, PreschoolExome SequencingFemaleGenetic Predisposition to DiseaseGenomicsGraft vs Host DiseaseHumansInfantMaleMiddle Aged

Identifiers

PMID40739694
PMCPMC13277408

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