Nonmyeloablative hematopoietic stem cell transplant for XXXX with cholangiopathy.

@entity1 @entity1112 @entity11603 @entity281 @entity3118 @entity2132 @entity205 @entity74 @entity5501 @entity1863 @entity1292 @entity99
OBJECTIVE: @entity1112 is a rare @entity74 caused by mutations in the gene encoding @entity11603 ( @entity11603 , @entity11603 ). Allogeneic hematopoietic stem cell transplantation (HSCT) offers the prospect of immune reconstitution in @entity1112 . Standard HSCT using high-dose chemoradiotherapy can be followed by serious hepatic problems, including @entity5501 , @entity2132 , and/or drug-induced hepatotoxicity. In @entity1 whose liver function is compromised before HSCT, such as in @entity1112 caused by cholangiopathy and @entity99 related to @entity1292 , there is a higher likelihood of hepatotoxicity. We explored nonmyeloablative HSCT in 2 @entity1 with @entity1112 . Nonmyeloablative HSCT without liver transplant for @entity1112 , to our knowledge, has not been described previously. METHODS: Two @entity1 with @entity1112 and persistent @entity281 had documented cholangiopathy on liver biopsy. Both @entity1 underwent nonmyeloablative HSCT from HLA-matched siblings with @entity3118 , @entity1863 , and anti-thymocyte globulin as their preparative regimen. @entity2132 prophylaxis consisted of @entity205 . RESULTS: Both @entity1 are >2 years after their HSCT. One remains a mixed chimera, and the other shows 100% donor chimerism. Both @entity1 are now free of @entity281 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 @entity1 with @entity1112 and preexisting cholangiopathy. Even with stable mixed chimerism after allogeneic HSCT, @entity1 may be able to enjoy a normal phenotype. Nonmyeloablative HSCT warrants additional study in @entity1112 .
