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TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome

Bone Marrow Transplantation volume 51, pages 438–439 (2016)Cite this article

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Mucopolysaccharidoses are rare inherited metabolic disorders that may benefit from haematopoietic stem cell transplantation (HSCT) in selected cases. The aim of the procedure is to provide a number of stem cells that are capable of migrating into tissues and restoring the lacking enzymatic activity. Any GvHD is undesirable, and the graft should contain committed or differentiated cells, to protect against infections in the earliest aplastic phase. TCRαβ and CD19 depletion is a stem cell manipulation technique that allows preservation of residual cells and GvHD prevention through removal of alloreactive lymphocytes. We report here our experience with this approach in a patient with Hurler syndrome (HS).

A 21-month-old male child was referred to our institution with a clinical and biochemical diagnosis of mucopolysaccharidosis type I (HS) made in Iraq at the age of 1 year. He presented with macrocephaly, short neck, significant skeletal impairment, mild hepatosplenomegaly and umbilical hernia. His psychomotor development assessment showed a global significant retardation including the inability to walk independently and talk (score on Bayley scales <50, probably influenced by cultural and linguistic diversities). Audiometric examination documented a hearing threshold of 70 dB without lateralization. Urinary glycosaminoglycan (GAG) baseline levels were 637.9 mg GAGs per gram creatinine (normal values 13–62). Enzymatic activity on lymphocytes was absent. Molecular diagnosis was performed, showing a homozygous p.Tyr202 term (exon 6:c.606C>G) mutation of the alpha-L-iduronidase gene.

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Acknowledgements

We thank ‘Fondazione Città della Speranza’, which financially supported the patient’s course of treatment, Genzyme for the recombinant enzyme’s free of charge supply, and all HSCT staff of Padova University Hospital and Monica Benvenuti for their invaluable assistance.

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  1. M Scarpa and C Messina: These authors contributed equally to this work.

Authors and Affiliations

  1. Clinica di Oncoematologia Pediatrica, DAI di Salute della Donna e del Bambino, Azienda Ospedaliera-Università di Padova, Padova, Italy

    C Mainardi, M Tumino, M V Gazzola & C Messina

  2. Dipartimento di Pediatria, DAI di Salute della Donna e del Bambino, Azienda Ospedaliera-Università di Padova, Padova, Italy

    A Rampazzo & M Scarpa

Authors
  1. C Mainardi
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  2. M Tumino
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  3. M V Gazzola
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  4. A Rampazzo
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  5. M Scarpa
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  6. C Messina
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Correspondence to C Messina.

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Mainardi, C., Tumino, M., Gazzola, M. et al. TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome. Bone Marrow Transplant 51, 438–439 (2016). https://doi.org/10.1038/bmt.2015.258

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