{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:39:00Z","timestamp":1783384740982,"version":"3.54.6"},"reference-count":56,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background.<\/jats:title>\n                    <jats:p>Hematopoietic 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods.<\/jats:title>\n                    <jats:p>We 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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results.<\/jats:title>\n                    <jats:p>\n                      We analyzed pre-HCT exome\/genome sequencing (n\u2005=\u200584 exome, n\u2005=\u200563 genome, n\u2005=\u200532 with both) for 179 probands. Most (143\/179; 79.9%) had a PF underlying the HCT indication, with\n                      <jats:italic toggle=\"yes\">GATA2<\/jats:italic>\n                      being most common (n\u2005=\u200559). Three percent of participants had an SF predisposing to cancer or cardiovascular disease. Most (n\u2005=\u2005108\/179; 60.3%) received \u22651 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 \u22652 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 \u22652 GRF, respectively (log-rank: 16.10,\n                      <jats:italic toggle=\"yes\">df<\/jats:italic>\n                      = 2,\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u2005=\u20050.0003), indicating statistically significant survival differences by GRF.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions.<\/jats:title>\n                    <jats:p>Comprehensive 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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/tp.0000000000005504","type":"journal-article","created":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T04:00:26Z","timestamp":1753934426000},"page":"e166-e174","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Further Personalizing Medicine in Immune Disorders: Genomic Findings and Hematopoietic Cell Transplantation Survival"],"prefix":"10.1097","volume":"110","author":[{"given":"Morgan N.","family":"Similuk","sequence":"first","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah A.","family":"Bannon","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Yan","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajarshi","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekaterina E.","family":"Damskey","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Breanna J.","family":"Beers","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halyn","family":"Orellana","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Byers","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sruthi","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Kamen","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen","family":"Jodarski","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel G.","family":"Moses","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadjalisse C.","family":"Reynolds-Lallement","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie L.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce A.","family":"Seifert","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari J.","family":"Tokita","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin B.","family":"Lack","sequence":"additional","affiliation":[{"name":"NIAID Collaborative Bioinformatics Resource (NCBR), National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjia","family":"Cao","sequence":"additional","affiliation":[{"name":"NIAID Collaborative Bioinformatics Resource (NCBR), National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tristan M.","family":"Sissung","sequence":"additional","affiliation":[{"name":"Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William D.","family":"Figg","sequence":"additional","affiliation":[{"name":"Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimana","family":"Dimitrova","sequence":"additional","affiliation":[{"name":"Center for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Kanakry","sequence":"additional","affiliation":[{"name":"Center for Immuno-Oncology, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis D.","family":"Hickstein","sequence":"additional","affiliation":[{"name":"Immune Deficiency Cellular Therapy Program, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nirali N.","family":"Shah","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corina E.","family":"Gonzalez","sequence":"additional","affiliation":[{"name":"Immune Deficiency Cellular Therapy Program, National Cancer Institute, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas E.","family":"Hughes","sequence":"additional","affiliation":[{"name":"Clinical Center Pharmacy Department, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christa S.","family":"Zerbe","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen 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Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"Kang","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry L.","family":"Malech","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Koneti","family":"Rao","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Lisco","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan J.","family":"Fuss","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey I.","family":"Cohen","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica R.","family":"Durkee-Shock","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ottavia M.","family":"Delmonte","sequence":"additional","affiliation":[{"name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenna R. 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