title: Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.
abstract: We retrospectively analyzed the outcome of hematopoietic stem cell transplantations (HSCT) performed at our Center between 1991 and 2002 in 11 unselected patients with Omenn syndrome, a variant of severe combined immunodeficiency. The patients' mean age at the time of the first HSCT was 8.4 months. Two patients received two, and one patient three, HSCT procedures. The resulting 15 HSCT derived in seven cases from HLA-haploidentical parents, in four patients from matched unrelated donors, in three cases from an HLA phenotypically identical related donor, and in one case from an HLA genotypically identical family donor. Nine out of 11 patients are alive and immunoreconstituted 30-146 months after transplantation. At the time of the most recent evaluation, all of the nine survivors had normal T-cell function, and eight of them had developed normal antibody production. This study demonstrates an overall mortality of 18.2%, which is substantially lower than previously reported. Early recognition of OS, rapid initiation of adequate supportive treatment and HSCT lead to improved outcome for this otherwise fatal disease, regardless of the origin and matching of hematopoietic stem cells.
authors.affiliation: Department of Pediatrics, Children's Hospital, University of Brescia, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Mazzolari
authors.forename: D
authors.initials: D
authors.lastname: Moshous
authors.forename: C
authors.initials: C
authors.lastname: Forino
authors.forename: D
authors.initials: D
authors.lastname: De Martiis
authors.forename: C
authors.initials: C
authors.lastname: Offer
authors.forename: A
authors.initials: A
authors.lastname: Lanfranchi
authors.forename: S
authors.initials: S
authors.lastname: Giliani
authors.forename: L
authors.initials: L
authors.lastname: Imberti
authors.forename: S
authors.initials: S
authors.lastname: Pasic
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
authors.forename: F
authors.initials: F
authors.lastname: Porta
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D018572:Disease-Free Survival; D018380:Hematopoietic Stem Cell Transplantation; D054747:Histiocytic Sarcoma / Q000378:metabolism / Q000401:mortality / Q000628:therapy*; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D020127:Recovery of Function; D012189:Retrospective Studies; D013577:Syndrome; D013601:T-Lymphocytes / Q000378:metabolism; D014184:Transplantation, Homologous; D016896:Treatment Outcome