{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T13:57:59Z","timestamp":1764251879008,"version":"3.41.2"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"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 Transplantation"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteopetrosis is a group of geneticall heterogeneous disorders resulting from impaired osteoclast function and bone resorption. The identification of specific genetic mutations can yield important prognostic and therapeutic implications. Herein, we present the diagnosis and successful application of hematopoietic stem cell transplantation (HSCT) in a patient with osteopetrosis caused by carbonic anhydrase II deficiency (Intermediate osteopetrosis).<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>Herein, we describe a 2.5\u2010year\u2010old male patient born to consanguineous parents who presented at 8\u2010month\u2010old with hydrocephaly, brain shunt, and developmental delay. Later at 9\u2009months old, he was found to have eye disorder such as nystagmus, fracture of the elbow, abnormal skeletal survey, normal cell blood count (CBC), and severe hypocellularity in the bone marrow. Further evaluation showed renal tubular acidosis type 2. Whole\u2010exome sequencing revealed a pathogenic homozygous variant in intron 2 of the carbonic anhydrase 2 gene (<jats:italic>CA2<\/jats:italic>) gene (c.232\u2009+\u20091 G&gt;T). The diagnosis of intermediate autosomal recessive osteopetrosis was established, and allogenic HSCT from his mother, a full\u2010matched related donor (MRD), was planned. The conditioning regimen included Busulfan, Fludarabine, and Rabbit anti\u2010thymocyte globulin. Cyclosporine and Mycophenolate Mofetil were used for graft\u2010versus\u2010host\u2010disease prophylaxis. He Engrafted on day +13, and 95% chimerism was achieved. He is currently doing well without immunosuppressive therapy, now 12\u2009months post HSCT, with normal calcium level and improving visual quality and FISH analysis revealed complete donor chimerism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>HSCT could be a promising curative treatment for intermediate osteopetrosis and can provide long\u2010term survival. Ongoing challenges in various aspects of HSCT remain to be addressed.<\/jats:p><\/jats:sec>","DOI":"10.1111\/petr.14689","type":"journal-article","created":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T09:16:18Z","timestamp":1713950178000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report"],"prefix":"10.1111","volume":"28","author":[{"given":"Bibi Shahin","family":"Shamsian","sequence":"first","affiliation":[{"name":"Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health Shahid Beheshti University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nader","family":"Momtazmanesh","sequence":"additional","affiliation":[{"name":"Pediatric Congenital Hematologic Disorders 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