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• W2020373079 abstract "Summary. X‐linked Hoyeraal–Hreidarsson syndrome (XL‐HHS) is the severe infantile variant of X‐linked dyskeratosis congenita (XL‐DC) and both are due to mutations in the DKC1 gene within Xq28. We report a novel missense mutation in DKC1 exon 3 (T113→C, Ile38Thr) in a Sardinian infant with XL‐HHS in whom the disease was characterized by ‘T + B – NK – ’ severe combined immunodeficiency and bone marrow failure. He underwent sibling bone marrow transplantation using a conditioning regimen (fludarabine, rabbit antithymocyte globulin, low‐dose melphalan) selected according to the HHS/DC phenotype. This was associated with low toxicity, prompt engraftment with adequate immune reconstitution and full donor haemopoiesis." @default.
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• W2020373079 date "2002-11-18" @default.
• W2020373079 modified "2023-10-16" @default.
• W2020373079 title "A novel <i>DKC1</i> mutation, severe combined immunodeficiency (T⁺ B^- NK^- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome" @default.
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• W2020373079 doi "https://doi.org/10.1046/j.1365-2141.2002.03822.x" @default.
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