Hematopoietic stem cell transplantation in Omenn syndrome: A single-center experience

E. Mazzorali, D. Moshous, C. Forino, D. De Martiis, C. Offer, A. Lanfranchi, S. Giliani, L. Imberti, S. Pasic, A. G. Ugazio, F. Porta, L. D. Notarangelo

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)107-114
Number of pages8
JournalBone Marrow Transplantation
Issue number2
Publication statusPublished - Jul 2005


  • Omenn syndrome
  • Severe Combined Immunodeficiency
  • Stem cell transplantation

ASJC Scopus subject areas

  • Hematology
  • Transplantation


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