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.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$259.00 per year
only $21.58 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Griscelli C, Durandy A, Guy-Grand D et al. A syndrome associating partial albinism and immunodeficiency Am J Med 1978 65: 691 702
Siccardi AG, Bianchi E, Calligari A et al. A new familial defect in neutrophil bactericidal activity Helv Paediatr Acta 1978 33: 401 412
Menasche G, Pastural E, Feldmann J et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome Nat Genet 2000 25: 173 176
Hurvitz H, Gillis R, Klaus S et al. A kindred with Griscelli disease: spectrum of neurological involvement Eur J Pediat 1993 152: 402 405
Pastural E, Barrat FJ, Dufourcq-Lagelouse R et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene Nat Genet 1997 16: 289 292
Pastural E, Ersoy F, Yalman N et al. Two genes are responsible for Griscelli syndrome at the same 15q21 locus Genomics 2000 63: 299 306
Klein C, Phillipe N, Le Deist F et al. Partial albinism with immunodeficiency (Griscelli syndrome) J Pediat 1994 125: 886 895
Mancini AJ, Chan LS, Paller AS . Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature J Am Acad Derm 1998 38: 295 300
Schneider LC, Berman RS, Shea CR et al. Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli's syndrome) J Clin Immunol 1990 10: 146 153
Kurugol Z, Ozkinay F, Vardar F et al. Griscelli syndrome: report of a case and review of the literature Pediatr Int 2001 43: 298 301
Kumar M, Sackey K, Schmalstieg F et al. Griscelli syndrome: a rare neonatal syndrome of recurrent hemophagocytosis J Pediatr Hematol Oncol 2001 23: 464 468
Henter J-I, Samuelsson AC, Aricò M for the Histiocyte Society et al. Treatment of hemophagocytic lymphohistiocytosis with HLH–94 immuno-chemotherapy and bone marrow transplantation Blood (in press)
Aricò M, Allen M, Brusa S et al. Hemophagocytic lymphohistiocytosis: proposal of a flow-chart for the differential diagnosis of the different subtypes Br J Haematol (in press)
Tezcan I, Sanal O, Ersoy F et al. Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement Bone Marrow Transplant 1999 24: 931 933
Schuster F, Stachel DK, Schmid I et al. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT Bone Marrow Transplant 2001 28: 409 412
Aricò M, Danesino C, Pende D, Moretta L . Pathogenesis of haemophagocytic lymphohistiocytosis Br J Haematol 2001 114: 761 769
Gluckman E, Locatelli F . Umbilical cord blood transplants Curr Opin Haematol 2000 7: 353 357
Jabado N, de-Graeff-Meeder ER, Cavazzana-Calvo M et al. Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically non-identical donors Blood 1997 90: 4743 4748
Terenzi A, Aversa F, Perruccio K et al. Efficacy of fludarabine as immunosuppressor for bone marrow transplantation conditioning Blood 1996 88: (Suppl. 1) 596a
Terenzi A, Lubin I, Lapidot T et al. Enhancement of T cell-depleted bone marrow allografts in mice by thiotepa Transplantation 1990 50: 717 720
Zecca M, Pession A, Messina C et al. Total body irradiation, thiotepa, and cyclophosphamide as a conditioning regimen for children with acute lymphoblastic leukemia in first or second remission undergoing bone marrow transplantation with HLA-identical siblings J Clin Oncol 1999 17: 1838 1846
Grigg A, Bardy P, Byron K et al. Fludarabine-based non-myeloablative chemotherapy followed by infusion of HLA-identical stem cells for relapsed leukaemia and lymphoma Bone Marrow Transplant 1999 23: 107 110
Giralt S, Estey E, Albitar M et al. Engraftment of allogeneic hematopoietic progenitor cells with purine analog-containing chemotherapy: harnessing graft-versus-host leukemia without myeloablative therapy Blood 1997 89: 4531 4536
Chan KW, Bekassy AN, Ha CS et al. Fludarabine-based preparative protocol for unrelated cord blood transplantation in children: successful engraftment with minimal toxicity Bone Marrow Transplant 1999 23: 849 851
Amrolia P, Gaspar HB, Hassan A et al. Nonmyeloablative stem cell transplantation for congenital immunodeficiencies Blood 2000 96: 1239 1246
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).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.bmt.1703567
Keywords
This article is cited by
-
Development, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells
Stem Cell Research & Therapy (2021)
-
Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients
Bone Marrow Transplantation (2020)
-
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
Orphanet Journal of Rare Diseases (2013)
-
Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients
European Journal of Pediatrics (2012)
-
Hematopoietic SCT in children with Griscelli syndrome: a single-center experience
Bone Marrow Transplantation (2010)