title: A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
abstract: 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.
authors.affiliation: Bone Marrow Transplant Unit, Ospedale Microcitemico, Cagliari, Italy. fcossa@mcweb.unica.it
authors.forename: Fausto
authors.initials: F
authors.lastname: Cossu
authors.forename: Tom J
authors.initials: TJ
authors.lastname: Vulliamy
authors.forename: Anna
authors.initials: A
authors.lastname: Marrone
authors.forename: Manuela
authors.initials: M
authors.lastname: Badiali
authors.forename: Antonio
authors.initials: A
authors.lastname: Cao
authors.forename: Inderjeet
authors.initials: I
authors.lastname: Dokal
mesh_terms: D001855:Bone Marrow Diseases / Q000235:genetics* / Q000628:therapy; D016026:Bone Marrow Transplantation / Q000379:methods*; D018797:Cell Cycle Proteins / Q000235:genetics*; D019871:Dyskeratosis Congenita / Q000235:genetics*; D006085:Graft Survival; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000235:genetics* / Q000628:therapy; D013577:Syndrome; D019172:Transplantation Conditioning / Q000379:methods
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins