{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T12:20:55Z","timestamp":1759580455447,"version":"3.40.5"},"reference-count":22,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,2,1]]},"abstract":"<jats:p>Objective. X-linked hyper-immunoglobulin M (X-HIM) syndrome is a rare genetic immunodeficiency syndrome caused by mutations in the gene encoding CD40 ligand (CD40L, CD154). Allogeneic hematopoietic stem cell transplantation (HSCT) offers the prospect of immune reconstitution in X-HIM syndrome. Standard HSCT using high-dose chemoradiotherapy can be followed by serious hepatic problems, including veno-occlusive disease, graft-versus-host disease, and\/or drug-induced hepatotoxicity. In patients whose liver function is compromised before HSCT, such as in X-HIM syndrome caused by cholangiopathy and hepatitis related to opportunistic infections, there is a higher likelihood of hepatotoxicity. We explored nonmyeloablative HSCT in 2 patients with X-HIM syndrome. Nonmyeloablative HSCT without liver transplant for X-HIM syndrome, to our knowledge, has not been described previously.<\/jats:p><jats:p>Methods. Two children with X-HIM syndrome and persistent infections had documented cholangiopathy on liver biopsy. Both children underwent nonmyeloablative HSCT from HLA-matched siblings with fludarabine, busulfan, and anti-thymocyte globulin as their preparative regimen. Graft-versus-host disease prophylaxis consisted of cyclosporine.<\/jats:p><jats:p>Results. Both children are &amp;gt;2 years after their HSCT. One remains a mixed chimera, and the other shows 100% donor chimerism. Both children are now free of infections and are no longer dependent on intravenous gammaglobulin. Both show response to immunizations. Both have had resolution of their cholangiopathy.<\/jats:p><jats:p>Conclusions. Nonmyeloablative HSCT from HLA-matched siblings can offer immune reconstitution without hepatotoxicity in patients with X-HIM syndrome and preexisting cholangiopathy. Even with stable mixed chimerism after allogeneic HSCT, patients may be able to enjoy a normal phenotype. Nonmyeloablative HSCT warrants additional study in X-HIM syndrome.<\/jats:p>","DOI":"10.1542\/peds.113.2.e122","type":"journal-article","created":{"date-parts":[[2004,8,14]],"date-time":"2004-08-14T00:53:04Z","timestamp":1092444784000},"page":"e122-e127","source":"Crossref","is-referenced-by-count":33,"title":["Nonmyeloablative Hematopoietic Stem Cell Transplant for X-Linked Hyper-Immunoglobulin M Syndrome With Cholangiopathy"],"prefix":"10.1542","volume":"113","author":[{"given":"David A.","family":"Jacobsohn","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\/Oncology\/Transplant"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karan M.","family":"Emerick","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology and Hepatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Scholl","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Immunology\/Rheumatology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hector","family":"Melin-Aldana","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Northwestern University, The Feinberg School of Medicine, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice","family":"O\u2019Gorman","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Northwestern University, The Feinberg School of Medicine, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reggie","family":"Duerst","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\/Oncology\/Transplant"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morris","family":"Kletzel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Hematology\/Oncology\/Transplant"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2004,2,1]]},"reference":[{"key":"2021121011022637600_R1","doi-asserted-by":"crossref","unstructured":"Grewal IS, Flavell RA. 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