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

Bone Marrow Transplantation volume 29, pages 995–998 (2002)Cite this article

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.

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Acknowledgements

This work was partly supported by grants from: AIRC (Associazione Italiana Ricerca sul Cancro) (FL); CNR (Consiglio Nazionale delle Ricerche) (FL); MURST (Ministero dell'Università e della Ricerca Scientifica e Tecnologica) (FL); IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Policlinico S Matteo (FL and MA); Telethon (MA); ‘Vaincre les maladies lysosomales (VML)’ (GDSB).

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Authors and Affiliations

  1. Onco Ematologia Pediatrica, Ospedale dei Bambini ‘G Di Cristina’, Palermo, Italy

    M Aricò

  2. Oncoematologia Pediatrica, IRCCS Policlinico San Matteo, Università di Pavia, Italy

    M Zecca, D Caselli, R Maccario & F Locatelli

  3. Clinica Pediatrica, Università di Bari, Italy

    N Santoro

  4. Biologia Generale e Genetica Medica, Università di Pavia, Italy

    C Danesino

  5. Institut National de la Sante et de la Recherche Medicale (INSERM) U429, Hopital Necker Enfants Malades, Paris, France

    G de Saint Basile

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  1. M Aricò
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  2. M Zecca
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  3. N Santoro
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  4. D Caselli
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  5. R Maccario
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  6. C Danesino
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  7. G de Saint Basile
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  8. F Locatelli
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Aricò, M., Zecca, M., Santoro, N. et al. Successful treatment of Griscelli syndrome with unrelated donor allogeneic hematopoietic stem cell transplantation. Bone Marrow Transplant 29, 995–998 (2002). https://doi.org/10.1038/sj.bmt.1703567

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