Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin M syndrome with cholangiopathy.
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| Title: | Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin M syndrome with cholangiopathy. |
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| Authors: | Jacobsohn DA (AUTHOR), Emerick KM (AUTHOR), Scholl P (AUTHOR), Melin-Aldana H (AUTHOR), O'Gorman M (AUTHOR), Duerst R (AUTHOR), Kletzel M (AUTHOR) |
| Source: | Pediatrics. 2004 Feb Supplement, Vol. 113 Issue 2, pe122-7. 1p. |
| Abstract: | 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. 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. RESULTS: Both children are >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. 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. [ABSTRACT FROM AUTHOR] |
| Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 106611294 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin M syndrome with cholangiopathy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Jacobsohn+DA%22">Jacobsohn DA</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Emerick+KM%22">Emerick KM</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Scholl+P%22">Scholl P</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Melin-Aldana+H%22">Melin-Aldana H</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22O'Gorman+M%22">O'Gorman M</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Duerst+R%22">Duerst R</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kletzel+M%22">Kletzel M</searchLink> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Pediatrics%22">Pediatrics</searchLink>. 2004 Feb Supplement, Vol. 113 Issue 2, pe122-7. 1p. – Name: Abstract Label: Abstract Group: Ab Data: 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. 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. RESULTS: Both children are >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. 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. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1542/peds.113.2.e122 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 1 StartPage: e122 Titles: – TitleFull: Nonmyeloablative hematopoietic stem cell transplant for X-linked hyper-immunoglobulin M syndrome with cholangiopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jacobsohn DA – PersonEntity: Name: NameFull: Emerick KM – PersonEntity: Name: NameFull: Scholl P – PersonEntity: Name: NameFull: Melin-Aldana H – PersonEntity: Name: NameFull: O'Gorman M – PersonEntity: Name: NameFull: Duerst R – PersonEntity: Name: NameFull: Kletzel M IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 02 Text: 2004 Feb Supplement Type: published Y: 2004 Identifiers: – Type: issn-print Value: 00314005 Numbering: – Type: volume Value: 113 – Type: issue Value: 2 Titles: – TitleFull: Pediatrics Type: main |
| ResultId | 1 |
