{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T15:45:58Z","timestamp":1782920758217,"version":"3.54.5"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000005","name":"U.S. Department of Defense","doi-asserted-by":"publisher","award":["HT94252410445"],"award-info":[{"award-number":["HT94252410445"]}],"id":[{"id":"10.13039\/100000005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01HL174612"],"award-info":[{"award-number":["R01HL174612"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R38HL150214"],"award-info":[{"award-number":["R38HL150214"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001422","name":"American Society of Hematology","doi-asserted-by":"publisher","award":["ASH HIP Fellow Award"],"award-info":[{"award-number":["ASH HIP Fellow Award"]}],"id":[{"id":"10.13039\/100001422","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Leukemia"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Acquired aplastic anemia (AA) can present similarly to inherited bone marrow failure syndromes (IBMFS) but treatment differs. AA diagnosis relies on excluding IBMFS; however, genetic testing is not always available, may delay care or be inconclusive. We developed the Predictive Aplastic Score System (PASS), a clinical tool using readily available data to distinguish AA from IBMFS in adults. The training cohort included 212 adults (162 AA, 50 IBMFS). Compared to IBMFS, AA patients were older and more likely to have acute-onset, severe cytopenias. Using logistic regression with LASSO, we selected seven clinical variables for model inclusion: severity, acuity, age, IBMFS red flags, AA-associated conditions, AA-associated somatic changes, and telomere lengths. The model achieved AUC of 0.990 (95% CI: 0.982\u20130.999), with 100% positive predictive value (PPV) for AA for scores \u226530. 86.8% of patients with scores &lt;0 had IBMFS. We validated PASS in 716 patients from four external cohorts with AUC of 0.977 (95% CI: 0.968\u20130.987). Threshold analysis confirmed 100% PPV for scores \u226530, rapidly diagnosing 80% of AA cases. PASS is a practical and accurate clinical tool that can rapidly distinguish AA from IBMFS for most adult patients. To promote clinical adoption, we developed an\u00a0open-access web calculator (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/pennmedicine.shinyapps.io\/passcalc\/\" ext-link-type=\"uri\">https:\/\/pennmedicine.shinyapps.io\/passcalc\/<\/jats:ext-link>\n                    ).\n                  <\/jats:p>","DOI":"10.1038\/s41375-026-02924-3","type":"journal-article","created":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T08:15:30Z","timestamp":1777277730000},"page":"1411-1426","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Development and validation of the predictive aplastic score system (PASS): a simplified tool to diagnose acquired aplastic anemia in adults"],"prefix":"10.1038","volume":"40","author":[{"given":"Gabriel","family":"Aleixo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HeeJin","family":"Cheon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5559-6847","authenticated-orcid":false,"given":"Jiayin","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Soewito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-0789-8941","authenticated-orcid":false,"given":"Jimmy","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00e9onore","family":"Kaphan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7999-3081","authenticated-orcid":false,"given":"Neha","family":"Kalakuntla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9339-3362","authenticated-orcid":false,"given":"Wei-Ying","family":"Jen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumasri","family":"Kotha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Rupsee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mia","family":"Djulbegovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jairo A.","family":"Matthews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9892-9832","authenticated-orcid":false,"given":"Tapan M.","family":"Kadia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy S.","family":"Olson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R\u00e9gis","family":"Peffault de Latour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2000-1556","authenticated-orcid":false,"given":"Flore","family":"Sicre De Fontbrune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taha","family":"Bat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9003-0390","authenticated-orcid":false,"given":"Courtney D.","family":"DiNardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1745-0353","authenticated-orcid":false,"given":"Daria V.","family":"Babushok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,27]]},"reference":[{"key":"2924_CR1","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.1056\/NEJMra1413485","volume":"379","author":"NS Young","year":"2018","unstructured":"Young NS. Aplastic anemia. N Engl J Med. 2018;379:1643\u201356.","journal-title":"N Engl J Med"},{"key":"2924_CR2","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1016\/j.hoc.2009.01.005","volume":"23","author":"A Bacigalupo","year":"2009","unstructured":"Bacigalupo A, Passweg J. Diagnosis and treatment of acquired aplastic anemia. Hematol Oncol Clin N. 2009;23:159.","journal-title":"Hematol Oncol Clin N"},{"key":"2924_CR3","doi-asserted-by":"publisher","first-page":"3946","DOI":"10.1182\/bloodadvances.2023011642","volume":"8","author":"DV Babushok","year":"2024","unstructured":"Babushok DV, DeZern AE, de Castro CM, Rogers ZR, Beenhouwer D, Broder MS, et al. Modified Delphi panel consensus recommendations for management of severe aplastic anemia. Blood Adv. 2024;8:3946\u201360.","journal-title":"Blood Adv"},{"key":"2924_CR4","doi-asserted-by":"publisher","first-page":"784","DOI":"10.1111\/bjh.19236","volume":"204","author":"A Kulasekararaj","year":"2024","unstructured":"Kulasekararaj A, Cavenagh J, Dokal I, Foukaneli T, Gandhi S, Garg M, et al. Guidelines for the diagnosis and management of adult aplastic anaemia: a British Society for Haematology Guideline. Br J Haematol. 2024;204:784\u2013804.","journal-title":"Br J Haematol"},{"key":"2924_CR5","doi-asserted-by":"publisher","first-page":"2660","DOI":"10.1182\/bloodadvances.2021004345","volume":"5","author":"AE DeZern","year":"2021","unstructured":"DeZern AE, Churpek JE. Approach to the diagnosis of aplastic anemia. Blood Adv. 2021;5:2660\u201371.","journal-title":"Blood Adv"},{"key":"2924_CR6","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1182\/hematology.2021000244","volume":"2021","author":"S Keel","year":"2021","unstructured":"Keel S, Geddis A. The clinical and laboratory evaluation of patients with suspected hypocellular marrow failure. Hematol Am Soc Hematol Educ Program. 2021;2021:134\u201342.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2924_CR7","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1182\/hematology.2021000246","volume":"2021","author":"A Narla","year":"2021","unstructured":"Narla A. When to worry about inherited bone marrow failure and myeloid malignancy predisposition syndromes in the setting of a hypocellular marrow. Hematol Am Soc Hematol Educ Program. 2021;2021:153\u20136.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2924_CR8","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1053\/j.semdp.2023.06.006","volume":"40","author":"J Li","year":"2023","unstructured":"Li J, Bledsoe JR. Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: a practical approach for the pathologist. Semin Diagn Pathol. 2023;40:429\u201342.","journal-title":"Semin Diagn Pathol"},{"key":"2924_CR9","doi-asserted-by":"crossref","unstructured":"Diaz-de-Heredia C, Bierings M, Dalle JH, Fioredda F, Strahm B Fanconi Anemia and Other Hereditary Bone Marrow Failure Syndromes. In: Sureda A, Corbacioglu S, Greco R, Kroger N, Carreras E (eds). The EBMT Handbook: Hematopoietic Cell Transplantation and Cellular Therapies, 8th edn: Cham (CH), 2024: 717\u201324.","DOI":"10.1007\/978-3-031-44080-9_79"},{"key":"2924_CR10","first-page":"2100","volume":"141","author":"F Gutierrez-Rodrigues","year":"2023","unstructured":"Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, et al. Differential diagnosis of bone marrow failure syndromes guided by machine learning. Blood. 2023;141:2100\u201313.","journal-title":"Blood"},{"key":"2924_CR11","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1182\/hematology.2023000488","volume":"2023","author":"F Gutierrez-Rodrigues","year":"2023","unstructured":"Gutierrez-Rodrigues F, Patel BA, Groarke EM. When to consider inherited marrow failure syndromes in adults. Hematol Am Soc Hematol Educ Program. 2023;2023:548\u201355.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2924_CR12","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1053\/bbmt.1999.v5.pm10465104","volume":"5","author":"HJ Deeg","year":"1999","unstructured":"Deeg HJ, Seidel K, Casper J, Anasetti C, Davies S, Gajeweski JL, et al. Marrow transplantation from unrelated donors for patients with severe aplastic anemia who have failed immunosuppressive therapy. Biol Blood Marrow Transpl. 1999;5:243\u201352.","journal-title":"Biol Blood Marrow Transpl"},{"key":"2924_CR13","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1002\/ajh.25138","volume":"94","author":"A Bacigalupo","year":"2019","unstructured":"Bacigalupo A, Oneto R, Schrezenmeier H, Hochsmann B, Dufour C, Kojima S, et al. First line treatment of aplastic anemia with thymoglobuline in Europe and Asia: outcome of 955 patients treated 2001-2012. Am J Hematol. 2019;94:165.","journal-title":"Am J Hematol"},{"key":"2924_CR14","doi-asserted-by":"publisher","first-page":"11","DOI":"10.3324\/haematol.10075","volume":"92","author":"A Locasciulli","year":"2007","unstructured":"Locasciulli A, Oneto R, Bacigalupo A, Socie G, Korthof E, Bekassy A, et al. Outcome of patients with acquired aplastic anemia given first line bone marrow transplantation or immunosuppressive treatment in the last decade: a report from the European Group for Blood and Marrow Transplantation (EBMT). Haematologica. 2007;92:11\u201318.","journal-title":"Haematologica"},{"key":"2924_CR15","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1007\/s00277-020-04296-9","volume":"100","author":"Y Lan","year":"2021","unstructured":"Lan Y, Chang L, Yi M, Cai Y, Feng J, Ren Y, et al. Long-term outcomes of 172 children with severe aplastic anemia treated with rabbit antithymocyte globulin and cyclosporine. Ann Hematol. 2021;100:53\u201361.","journal-title":"Ann Hematol"},{"key":"2924_CR16","doi-asserted-by":"publisher","first-page":"976","DOI":"10.3324\/haematol.2009.018267","volume":"95","author":"A Bacigalupo","year":"2010","unstructured":"Bacigalupo A, Socie G, Lanino E, Prete A, Locatelli F, Locasciulli A, et al. Fludarabine, cyclophosphamide, antithymocyte globulin, with or without low dose total body irradiation, for alternative donor transplants, in acquired severe aplastic anemia: a retrospective study from the EBMT-SAA Working Party. Haematologica. 2010;95:976\u201382.","journal-title":"Haematologica"},{"key":"2924_CR17","doi-asserted-by":"publisher","first-page":"2405","DOI":"10.1007\/s00277-022-04952-2","volume":"101","author":"J Hu","year":"2022","unstructured":"Hu J, Zhang L, Zhao X, Liu X, Jing L, Zhou K, et al. First-line immunosuppressive therapy with rATG and CsA for severe aplastic anemia: 15 years\u2019 experience. Ann Hematol. 2022;101:2405\u201312.","journal-title":"Ann Hematol"},{"key":"2924_CR18","doi-asserted-by":"publisher","first-page":"1168","DOI":"10.1038\/bmt.2013.35","volume":"48","author":"M Ayas","year":"2013","unstructured":"Ayas M, Nassar A, Hamidieh AA, Kharfan-Dabaja M, Othman TB, Elhaddad A, et al. Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure. Bone Marrow Transpl. 2013;48:1168\u201372.","journal-title":"Bone Marrow Transpl"},{"key":"2924_CR19","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1016\/j.bbmt.2013.05.021","volume":"19","author":"SM Gadalla","year":"2013","unstructured":"Gadalla SM, Sales-Bonfim C, Carreras J, Alter BP, Antin JH, Ayas M, et al. Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita. Biol Blood Marrow Transpl. 2013;19:1238\u201343.","journal-title":"Biol Blood Marrow Transpl"},{"key":"2924_CR20","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1038\/bmt.2008.151","volume":"42","author":"D Bhatla","year":"2008","unstructured":"Bhatla D, Davies SM, Shenoy S, Harris RE, Crockett M, Shoultz L, et al. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transpl. 2008;42:159\u201365.","journal-title":"Bone Marrow Transpl"},{"key":"2924_CR21","first-page":"414","volume":"94","author":"RF Orfali","year":"1999","unstructured":"Orfali RF, Wynn RF, Stevens RF, Chopra R, Ball SE. Failure of red cell production following allogenic BMT for Diamond Blackfan anaemia (DBA) illustrates functional significance of high erythrocyte adenosine deaminase (eADA) activity in the donor [abstract]. Blood. 1999;94:414.","journal-title":"Blood"},{"key":"2924_CR22","doi-asserted-by":"publisher","first-page":"1628","DOI":"10.1016\/S0140-6736(03)14797-6","volume":"362","author":"PF Fogarty","year":"2003","unstructured":"Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet. 2003;362:1628\u201330.","journal-title":"Lancet"},{"key":"2924_CR23","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1111\/j.1365-2141.2010.08078.x","volume":"149","author":"ML MacMillan","year":"2010","unstructured":"MacMillan ML, Wagner JE. Haematopoeitic cell transplantation for Fanconi anaemia - when and how? Br J Haematol. 2010;149:14\u201321.","journal-title":"Br J Haematol"},{"key":"2924_CR24","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1182\/blood.2022016508","volume":"140","author":"LJ McReynolds","year":"2022","unstructured":"McReynolds LJ, Rafati M, Wang Y, Ballew BJ, Kim J, Williams VV, et al. Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes. Blood. 2022;140:909\u201321.","journal-title":"Blood"},{"key":"2924_CR25","unstructured":"NCCN. Myelodysplastic Syndrome. [cited August 26, 2015]; 1.2016:[Available from: http:\/\/www.nccn.org\/professionals\/physician_gls\/pdf\/mds.pdf."},{"key":"2924_CR26","doi-asserted-by":"crossref","unstructured":"de Latour RP, Risitano A, Kulasekararaj A, Dufour C Acquired Bone Marrow Failure: Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria. In: Sureda A, Corbacioglu S, Greco R, et al (eds). The EBMT Handbook: Hematopoietic Cell Transplantation and Cellular Therapies [Internet]. Springer: Cham (CH), 2024.","DOI":"10.1007\/978-3-031-44080-9_78"},{"key":"2924_CR27","doi-asserted-by":"publisher","first-page":"3216","DOI":"10.1182\/bloodadvances.2021004201","volume":"5","author":"YB Shah","year":"2021","unstructured":"Shah YB, Priore SF, Li Y, Tang CN, Nicholas P, Kurre P, et al. The predictive value of PNH clones, 6p CN-LOH, and clonal TCR gene rearrangement for aplastic anemia diagnosis. Blood Adv. 2021;5:3216\u201326.","journal-title":"Blood Adv"},{"key":"2924_CR28","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1182\/hematology.2021000245","volume":"2021","author":"DV Babushok","year":"2021","unstructured":"Babushok DV. When does a PNH clone have clinical significance? Hematol Am Soc Hematol Educ Program. 2021;2021:143\u201352.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2924_CR29","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1111\/ejh.12299","volume":"92","author":"AE DeZern","year":"2014","unstructured":"DeZern AE, Symons HJ, Resar LS, Borowitz MJ, Armanios MY, Brodsky RA. Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. Eur J Haematol. 2014;92:467\u201370.","journal-title":"Eur J Haematol"},{"key":"2924_CR30","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1016\/j.clml.2024.06.001","volume":"24","author":"P Nasnas","year":"2024","unstructured":"Nasnas P, Ling J, Gerstein Y, Wang SA, Loghavi S, Hammond D, et al. Detection of PNH clones can aid in the distinction of aplastic anemia vs inherited BM failure syndromes: a single center experience and review of the literature. Clin Lymphoma Myeloma Leuk. 2024;24:732\u20135.","journal-title":"Clin Lymphoma Myeloma Leuk"},{"key":"2924_CR31","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/s12185-022-03519-1","volume":"119","author":"S Nakao","year":"2024","unstructured":"Nakao S. Diagnosis of immune pathophysiology in patients with bone marrow failure. Int J Hematol. 2024;119:231\u20139.","journal-title":"Int J Hematol"},{"key":"2924_CR32","doi-asserted-by":"publisher","first-page":"3848","DOI":"10.1182\/blood-2004-04-1472","volume":"105","author":"R Hu","year":"2005","unstructured":"Hu R, Mukhina GL, Piantadosi S, Barber JP, Jones RJ, Brodsky RA. PIG-a mutations in normal hematopoiesis. Blood. 2005;105:3848\u201354.","journal-title":"Blood"},{"key":"2924_CR33","doi-asserted-by":"publisher","first-page":"5209","DOI":"10.1073\/pnas.96.9.5209","volume":"96","author":"DJ Araten","year":"1999","unstructured":"Araten DJ, Nafa K, Pakdeesuwan K, Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci USA. 1999;96:5209\u201314.","journal-title":"Proc Natl Acad Sci USA"},{"key":"2924_CR34","doi-asserted-by":"publisher","first-page":"536","DOI":"10.1002\/stem.1301","volume":"31","author":"T Katagiri","year":"2013","unstructured":"Katagiri T, Kawamoto H, Nakakuki T, Ishiyama K, Okada-Hatakeyama M, Ohtake S, et al. Individual hematopoietic stem cells in human bone marrow of patients with aplastic anemia or myelodysplastic syndrome stably give rise to limited cell lineages. Stem Cells. 2013;31:536\u201346.","journal-title":"Stem Cells"},{"key":"2924_CR35","doi-asserted-by":"publisher","first-page":"2517","DOI":"10.1182\/bloodadvances.2021006044","volume":"6","author":"A Narita","year":"2022","unstructured":"Narita A, Miwata S, Imaya M, Tsumura Y, Yamamori A, Wakamatsu M, et al. Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia. Blood Adv. 2022;6:2517\u20139.","journal-title":"Blood Adv"},{"key":"2924_CR36","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1111\/bjh.18491","volume":"200","author":"YB Shah","year":"2023","unstructured":"Shah YB, Lin P, Chen S, Zheng A, Alcaraz W, Towne MC, et al. Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant. Br J Haematol. 2023;200:222\u20138.","journal-title":"Br J Haematol"},{"key":"2924_CR37","doi-asserted-by":"crossref","unstructured":"Alter BP Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematol Am Soc Hematol Educ Program. 2007:29\u201339.","DOI":"10.1182\/asheducation-2007.1.29"},{"key":"2924_CR38","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1182\/asheducation-2017.1.79","volume":"2017","author":"AH West","year":"2017","unstructured":"West AH, Churpek JE. Old and new tools in the clinical diagnosis of inherited bone marrow failure syndromes. Hematol Am Soc Hematol Educ Program. 2017;2017:79\u201387.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2924_CR39","doi-asserted-by":"publisher","first-page":"1718","DOI":"10.1182\/blood.V70.6.1718.1718","volume":"70","author":"Incidence of aplastic anemia","year":"1987","unstructured":"Incidence of aplastic anemia. the relevance of diagnostic criteria. By the International Agranulocytosis and Aplastic Anemia Study. Blood. 1987;70:1718\u201321.","journal-title":"Blood"},{"key":"2924_CR40","doi-asserted-by":"publisher","first-page":"1540","DOI":"10.1056\/NEJMoa1613878","volume":"376","author":"DM Townsley","year":"2017","unstructured":"Townsley DM, Scheinberg P, Winkler T, Desmond R, Dumitriu B, Rios O, et al. Eltrombopag added to standard immunosuppression for aplastic anemia. N Engl J Med. 2017;376:1540\u201350.","journal-title":"N Engl J Med"},{"key":"2924_CR41","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1111\/bjh.18985","volume":"202","author":"S Dasari","year":"2023","unstructured":"Dasari S, Tse W, Wang J. Real-world evidence of incidence and outcomes of aplastic anaemia following administration of immune checkpoint inhibitors. Br J Haematol. 2023;202:1205\u20138.","journal-title":"Br J Haematol"},{"key":"2924_CR42","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1097\/MD.0b013e3182899e78","volume":"92","author":"A de Masson","year":"2013","unstructured":"de Masson A, Bouaziz JD, de Latour RP, Benhamou Y, Molucon-Chabrot C, Bay JO, et al. Severe aplastic anemia associated with eosinophilic fasciitis: report of 4 cases and review of the literature. Medicine. 2013;92:69\u201381.","journal-title":"Medicine"},{"key":"2924_CR43","doi-asserted-by":"publisher","first-page":"e333","DOI":"10.3324\/haematol.2019.226134","volume":"105","author":"N Gendron","year":"2020","unstructured":"Gendron N, de Fontbrune FS, Guyard A, Fadlallah J, Chantepie S, D\u2019Aveni M, et al. Aplastic anemia related to thymoma: a survey on behalf of the French reference center of aplastic anemia and a review of the literature. Haematologica. 2020;105:e333\u2013e336.","journal-title":"Haematologica"},{"key":"2924_CR44","first-page":"168","volume":"79","author":"A Oriol","year":"1994","unstructured":"Oriol A, Ribera JM, Hernandez A, Soriano V, Milla F, Feliu E. Aplastic anemia after non-A, non-B, and non-C hepatitis. Haematologica. 1994;79:168\u20139.","journal-title":"Haematologica"},{"key":"2924_CR45","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1111\/bjh.15074","volume":"184","author":"A Rovo","year":"2019","unstructured":"Rovo A, Kulasekararaj A, Medinger M, Chevallier P, Ribera JM, Peffault de Latour R, et al. Association of aplastic anaemia and lymphoma: a report from the severe aplastic anaemia working party of the European Society of Blood and Bone Marrow Transplantation. Br J Haematol. 2019;184:294\u20138.","journal-title":"Br J Haematol"},{"key":"2924_CR46","doi-asserted-by":"crossref","unstructured":"Solhaug TS, Tjonnfjord GE, Bjorgo K, Kildahl-Andersen O A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia. BMJ Case Rep. 2022;15:e247653.","DOI":"10.1136\/bcr-2021-247653"},{"key":"2924_CR47","doi-asserted-by":"publisher","first-page":"e0215021","DOI":"10.1371\/journal.pone.0215021","volume":"14","author":"T Linaburg","year":"2019","unstructured":"Linaburg T, Davis AR, Frey NV, Khawaja MR, Landsburg DJ, Schuster SJ, et al. Hodgkin lymphoma patients have an increased incidence of idiopathic acquired aplastic anemia. PLoS One. 2019;14:e0215021.","journal-title":"PLoS One"},{"key":"2924_CR48","first-page":"459","volume":"25","author":"BM Camitta","year":"1984","unstructured":"Camitta BM. Pathogenesis and treatment of aplastic anemia. Rinsho Ketsueki. 1984;25:459\u201369.","journal-title":"Rinsho Ketsueki"},{"key":"2924_CR49","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1038\/bmt.2012.230","volume":"48","author":"A Rovo","year":"2013","unstructured":"Rovo A, Tichelli A, Dufour C. Saa-Wp E. Diagnosis of acquired aplastic anemia. Bone Marrow Transpl. 2013;48:162\u20137.","journal-title":"Bone Marrow Transpl"},{"key":"2924_CR50","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1111\/j.2517-6161.1996.tb02080.x","volume":"58","author":"R Tibshirani","year":"2018","unstructured":"Tibshirani R. Regression shrinkage and selection via the lasso. J R Stat Soc Ser B. 2018;58:267\u201388.","journal-title":"J R Stat Soc Ser B"},{"key":"2924_CR51","doi-asserted-by":"publisher","first-page":"1983","DOI":"10.1002\/ajh.70064","volume":"100","author":"E Kaphan","year":"2025","unstructured":"Kaphan E, Walter-Petrich A, Larcher L, Leblanc T, Bruno B, Forcade E, et al. Recursive partitioning to differentiate acquired from inherited bone marrow failure syndromes. Am J Hematol. 2025;100:1983\u201392.","journal-title":"Am J Hematol"},{"key":"2924_CR52","doi-asserted-by":"publisher","first-page":"520","DOI":"10.3109\/10428194.2015.1115041","volume":"57","author":"DV Babushok","year":"2016","unstructured":"Babushok DV, Bessler M, Olson TS. Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults. Leuk Lymphoma. 2016;57:520\u201336.","journal-title":"Leuk Lymphoma"},{"key":"2924_CR53","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1016\/j.beha.2014.11.004","volume":"28","author":"DV Babushok","year":"2015","unstructured":"Babushok DV, Bessler M. Genetic predisposition syndromes: when should they be considered in the work-up of MDS? Best Pr Res Clin Haematol. 2015;28:55\u201368.","journal-title":"Best Pr Res Clin Haematol"},{"key":"2924_CR54","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/ijlh.13179","volume":"42","author":"LC Fox","year":"2020","unstructured":"Fox LC, Wood EM, Ritchie DS, Blombery P. Diagnostic evaluation and considerations in hypocellular bone marrow failure-A focus on genomics. Int J Lab Hematol. 2020;42:82\u201389.","journal-title":"Int J Lab Hematol"},{"key":"2924_CR55","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1053\/j.seminhematol.2018.05.016","volume":"56","author":"ME Kallen","year":"2019","unstructured":"Kallen ME, Dulau-Florea A, Wang W, Calvo KR. Acquired and germline predisposition to bone marrow failure: diagnostic features and clinical implications. Semin Hematol. 2019;56:69\u201382.","journal-title":"Semin Hematol"}],"container-title":["Leukemia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41375-026-02924-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41375-026-02924-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41375-026-02924-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T14:58:10Z","timestamp":1782917890000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41375-026-02924-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,27]]},"references-count":55,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["2924"],"URL":"https:\/\/doi.org\/10.1038\/s41375-026-02924-3","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-7725283\/v1","asserted-by":"object"}]},"ISSN":["0887-6924","1476-5551"],"issn-type":[{"value":"0887-6924","type":"print"},{"value":"1476-5551","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,27]]},"assertion":[{"value":"26 September 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 January 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 March 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 April 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All methods were performed in accordance with relevant institutional guidelines and regulations and in accordance with the ethical principles of the Declaration of Helsinki. Informed consent was obtained from all patients prospectively enrolled in the bi-institutional Penn\/CHOP BMF Registry (Penn IRB # 811751; CHOP IRB # 10-007569). Analysis of de-identified data identified retrospectively through the electronic medical record (EMR) was performed with ethics committee approval (Penn IRB # 856140), granted a waiver of consent for analysis of the de-identified retrospective dataset. Validation cohort data were collected with approval from the respective ethics committees at each participating institution, in compliance with applicable regulatory requirements. No identifiable images from human research participants are included in the manuscript; therefore, separate consent for publication of images is not required.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}