{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T16:37:09Z","timestamp":1777307829882,"version":"3.51.4"},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T00:00:00Z","timestamp":1739232000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Reticular dysgenesis (RD) is a rare inborn error of immune cell formation defined by severe combined immunodeficiency, agranulocytosis and sensorineural deafness. We report a case of successful haploidentical maternal hematopoietic stem cell transplantation (HSCT) in a boy with RD detected by TREC newborn screening. The patient was admitted to our hospital at 2 weeks of age and was kept in laminar-air flow \/ hepa-filtered isolation until HSCT was performed at 8 weeks of age with a busulfan, fludarabine conditioning regime. Except few episodes of acute skin graft-versus-host disease (aGVHD) the peritransplant period was uneventful. The patient was discharged 7 weeks post-HSCT. At 18 months of age cochlear implants were placed. The patient was thriving well, showed full donor chimerism and a T cell count\u2009&gt;\u20091000 TCRab\u2009+\u2009CD3\u2009+\u2009cells\/\u00b5l after one year. Our case highlights that severely immune-compromised patients with RD benefit from early diagnosis by newborn screening, immediate isolation to prevent infections, and early haploidentical HSCT to overcome neonatal neutropenia and establish protective immunity.<\/jats:p>","DOI":"10.1007\/s10875-025-01863-5","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T09:28:12Z","timestamp":1739266092000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Early Haploidentical Hematopoietic Stem Cell Transplantation Provides Rapid Leukocyte and Immune Reconstitution in AK2 Patient Identified by TREC Newborn Screening"],"prefix":"10.1007","volume":"45","author":[{"given":"Alphan","family":"Cicek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friedhelm R.","family":"Schuster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janel O.","family":"Boyle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manfred","family":"Hoenig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roland","family":"Meisel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sujal","family":"Ghosh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"issue":"1","key":"1863_CR1","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1038\/ng.278","volume":"41","author":"C Lagresle-Peyrou","year":"2009","unstructured":"Lagresle-Peyrou C, Six EM, Picard C, Rieux-Laucat F, Michel V, Ditadi A, et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet. 2009;41(1):106\u201311.","journal-title":"Nat Genet"},{"issue":"5","key":"1863_CR2","doi-asserted-by":"publisher","first-page":"644","DOI":"10.1111\/bjh.15045","volume":"180","author":"M Hoenig","year":"2018","unstructured":"Hoenig M, Pannicke U, Gaspar HB, Schwarz K. Recent advances in understanding the pathogenesis and management of reticular dysgenesis. Br J Haematol. 2018;180(5):644\u201353.","journal-title":"Br J Haematol"},{"issue":"1","key":"1863_CR3","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1038\/ng.265","volume":"41","author":"U Pannicke","year":"2009","unstructured":"Pannicke U, Honig M, Hess I, Friesen C, Holzmann K, Rump EM, et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet. 2009;41(1):101\u20135.","journal-title":"Nat Genet"},{"issue":"21","key":"1863_CR4","doi-asserted-by":"publisher","first-page":"2928","DOI":"10.1182\/blood-2016-11-745638","volume":"129","author":"M Hoenig","year":"2017","unstructured":"Hoenig M, Lagresle-Peyrou C, Pannicke U, Notarangelo LD, Porta F, Gennery AR, et al. Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. Blood. 2017;129(21):2928\u201338.","journal-title":"Blood"},{"key":"1863_CR5","doi-asserted-by":"crossref","unstructured":"Janardan SK, Pencheva B, Ross A, Karpen HE, Rytting H, Batsuli G. Reticular dysgenesis: a rare immunodeficiency in a Neonate with cytopenias and bacterial Sepsis. Pediatrics. 2021;148(6).","DOI":"10.1542\/peds.2021-051663"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-025-01863-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10875-025-01863-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-025-01863-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T15:47:04Z","timestamp":1777304824000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10875-025-01863-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,11]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["1863"],"URL":"https:\/\/doi.org\/10.1007\/s10875-025-01863-5","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"value":"0271-9142","type":"print"},{"value":"1573-2592","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,11]]},"assertion":[{"value":"15 August 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"22 January 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 February 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"74"}}