Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation

M. Aricó, M. Zecca, N. Santoro, D. Caselli, R. Maccario, C. Danesino, G. de Saint Basile, F. Locatelli

Research output: Contribution to journalArticle

Abstract

Griscelli syndrome (GS) is a rare autosomal recessive disorder, characterized by pigmentary dilution of the skin and hair and in most patients by abnormal regulation of the immune system, which results in a syndrome of macrophage hyperactivation, known as hemophagocytic lymophohistiocytosis (HLH). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment available for genetically induced HLH. Few cases of successful HSCT from a compatible donor have been reported in children with GS. We describe the first patient with GS cured with an allograft from a compatible unrelated bone marrow donor. We used a novel preparative regimen consisting of busulfan, thiotepa and fludarabine. The demonstrated curative effect of HSCT from an unrelated donor in a patient with genetically determined HLH also supports the use of a systematic diagnostic approach in these patients, in order to identify those with a worse prognosis and needing an urgent allograft in a timely manner.

Original languageEnglish
Pages (from-to)995-998
Number of pages4
JournalBone Marrow Transplantation
Volume29
Issue number12
DOIs
Publication statusPublished - 2002

Keywords

  • Griscelli syndrome
  • Hemophagocytic lymphohistiocytosis

ASJC Scopus subject areas

  • Hematology
  • Transplantation

Fingerprint Dive into the research topics of 'Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation'. Together they form a unique fingerprint.

  • Cite this