{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T03:41:41Z","timestamp":1785901301953,"version":"3.56.0"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>CHARGE syndrome is a congenital malformation syndrome caused by heterozygous mutations in the <jats:italic>CHD7<\/jats:italic> gene. Severe combined immunodeficiency (SCID) arises from congenital athymia called CHARGE\/complete DiGeorge syndrome. While cultured thymus tissue implantation (CTTI) provides an immunological cure, hematopoietic cell transplantation (HCT) is an alternative option for immuno\u2010reconstitution of affected infants. We aimed to clarify the clinical outcomes of patients with athymic CHARGE syndrome after HCT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied the immunological reconstitution and outcomes of four patients who received non\u2010conditioned unrelated donor cord blood transplantation (CBT) at Kyushu University Hospital from 2007 to 2022. The posttransplant outcomes were compared with the outcomes of eight reported patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four index cases received CBT 70\u2013144\u00a0days after birth and had no higher than grade II acute graft\u2010versus\u2010host disease. One infant was the first newborn\u2010screened athymic case in Japan. They achieved more than 500\/\u03bcL na\u00efve T cells with balanced repertoire 1\u00a0month post transplant, and survived more than 12\u00a0months with home care. Twelve patients including the index cases received HCT at a median 106\u00a0days after birth (range: 70\u2013195\u00a0days). One\u2010year overall survival rate was significantly higher in patients who underwent non\u2010conditioned HCT than in those who received conditioned HCT (100% vs. 37.5%, <jats:italic>p<\/jats:italic>\u00a0=\u00a0.02). Nine patients died, and the major cause of death was cardiopulmonary failure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Athymic infants achieved a prompt reconstitution of non\u2010skewing na\u00efve T cells after non\u2010conditioned CBT that led to home care in infancy without significant infections. Non\u2010conditioned CBT is a useful bridging therapy for newborn\u2010screened cases toward an immunological cure by CTTI.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.30809","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T17:52:22Z","timestamp":1702317142000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Non\u2010conditioned cord blood transplantation for infection control in athymic CHARGE syndrome"],"prefix":"10.1002","volume":"71","author":[{"given":"Motoshi","family":"Sonoda","sequence":"first","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kyushu University  Fukuoka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Ishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kyushu University  Fukuoka 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