{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:03:06Z","timestamp":1762077786913,"version":"build-2065373602"},"reference-count":62,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T00:00:00Z","timestamp":1669939200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Family Association for Children with Serious Illness, Taiwan","award":["FACSI 211001"],"award-info":[{"award-number":["FACSI 211001"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Most cases of acquired aplastic anemia (AA) arise from autoimmune destruction of hematopoietic stem and progenitor cells. Human leukocyte antigen (HLA)-haploidentical nonmyeloablative hematopoietic stem cell transplantation (HSCT) plus post-transplantation cyclophosphamide (PTCy) is increasingly applied to salvage AA using bone marrow as graft and anti-thymocyte globulin (ATG) in conditioning. Herein, we characterize a cohort of twelve AA patients clinically and molecularly, six who possessed other immunological disorders (including two also carrying germline SAMD9L mutations). Each patient with SAMD9L mutation also carried an AA-related rare BCORL1 variant or CTLA4 p.T17A GG genotype, respectively, and both presented short telomere lengths. Six of the ten patients analyzed harbored AA-risky HLA polymorphisms. All patients recovered upon non-HSCT (n = 4) or HSCT (n = 8) treatments. Six of the eight HSCT-treated patients were subjected to a modified PTCy-based regimen involving freshly prepared peripheral blood stem cells (PBSC) as graft and exclusion of ATG. All patients were engrafted between post-transplantation days +13 and +18 and quickly reverted to normal life, displaying a sustained complete hematologic response and an absence of graft-versus-host disease. These outcomes indicate most AA cases, including of the SAMD9L-inherited subtype, are immune-mediated and the modified PTCy-based regimen we present is efficient and safe for salvage.<\/jats:p>","DOI":"10.3390\/ijms232315192","type":"journal-article","created":{"date-parts":[[2022,12,5]],"date-time":"2022-12-05T01:42:21Z","timestamp":1670204541000},"page":"15192","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Anti-Thymocyte Globulin (ATG)-Free Nonmyeloablative Haploidentical PBSCT Plus Post-Transplantation Cyclophosphamide Is a Safe and Efficient Treatment Approach for Pediatric Acquired Aplastic Anemia"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0290-9886","authenticated-orcid":false,"given":"Rong-Long","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Koo Foundation Sun Yat-sen Cancer Center, Taipei 11259, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng Peng","family":"Ip","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology, Academia Sinica, Taipei 115024, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jy-juinn","family":"Shaw","sequence":"additional","affiliation":[{"name":"School of Law, National Yang Ming Chiao Tung University, Hsinchu City 30093, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Hsin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Tamkang University, Tamsui, New Taipei City 251301, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li-Hua","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, Koo Foundation Sun Yat-sen Cancer Center, Taipei 11259, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Ling","family":"Shen","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology, Academia Sinica, Taipei 115024, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nithila A.","family":"Joseph","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology, Academia Sinica, Taipei 115024, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsen-Erh","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology, Academia Sinica, Taipei 115024, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9857-068X","authenticated-orcid":false,"given":"Liuh-Yow","family":"Chen","sequence":"additional","affiliation":[{"name":"Institute of Molecular Biology, Academia Sinica, Taipei 115024, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Giudice, V., Cardamone, C., Triggiani, M., and Selleri, C. 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