{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T07:11:14Z","timestamp":1793949074939,"version":"4.8.0"},"reference-count":44,"publisher":"American Society of Hematology","issue":"8","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,8,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Patients with severe aplastic anemia (SAA) can have an unrecognized inherited bone marrow failure syndrome (IBMFS) because of phenotypic heterogeneity. We curated germline genetic variants in 104 IBMFS-associated genes from exome sequencing performed on 732 patients who underwent hematopoietic cell transplant (HCT) between 1989 and 2015 for acquired SAA. Patients with pathogenic or likely pathogenic (P\/LP) variants fitting known disease zygosity patterns were deemed unrecognized IBMFS. Carriers were defined as patients with a single P\/LP variant in an autosomal recessive gene or females with an X-linked recessive P\/LP variant. Cox proportional hazard models were used for survival analysis with follow-up until 2017. We identified 113 P\/LP single-nucleotide variants or small insertions\/deletions and 10 copy number variants across 42 genes in 121 patients. Ninety-one patients had 105 in silico predicted deleterious variants of uncertain significance (dVUS). Forty-eight patients (6.6%) had an unrecognized IBMFS (33% adults), and 73 (10%) were carriers. No survival difference between dVUS and acquired SAA was noted. Compared with acquired SAA (no P\/LP variants), patients with unrecognized IBMFS, but not carriers, had worse survival after HCT (IBMFS hazard ratio [HR], 2.13; 95% confidence interval[CI], 1.40-3.24; P = .0004; carriers HR, 0.96; 95% CI, 0.62-1.50; P = .86). Results were similar in analyses restricted to patients receiving reduced-intensity conditioning (n = 448; HR IBMFS = 2.39; P = .01). The excess mortality risk in unrecognized IBMFS attributed to death from organ failure (HR = 4.88; P &amp;lt; .0001). Genetic testing should be part of the diagnostic evaluation for all patients with SAA to tailor therapeutic regimens. Carriers of a pathogenic variant in an IBMFS gene can follow HCT regimens for acquired SAA.<\/jats:p>","DOI":"10.1182\/blood.2022016508","type":"journal-article","created":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T16:01:12Z","timestamp":1656691272000},"page":"909-921","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":58,"title":["Genetic testing in severe aplastic anemia is required for\u00a0optimal hematopoietic cell transplant outcomes"],"prefix":"10.1182","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1018-1453","authenticated-orcid":false,"given":"Lisa J.","family":"McReynolds","sequence":"first","affiliation":[{"name":"1Clinical Genetics Branch and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7118-3412","authenticated-orcid":false,"given":"Maryam","family":"Rafati","sequence":"additional","affiliation":[{"name":"1Clinical Genetics Branch 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E.","family":"Marsh","sequence":"additional","affiliation":[{"name":"7Anthony Nolan Research Institute and University College London Cancer Institute, London, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7271-8252","authenticated-orcid":false,"given":"Stephen R.","family":"Spellman","sequence":"additional","affiliation":[{"name":"8Center for International Blood and Marrow Transplant Research, National Marrow Donor Program, Minneapolis, MN;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilun","family":"He","sequence":"additional","affiliation":[{"name":"8Center for International Blood and Marrow Transplant Research, National Marrow Donor Program, Minneapolis, MN;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2596-6843","authenticated-orcid":false,"given":"Tao","family":"Wang","sequence":"additional","affiliation":[{"name":"9Center for International 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