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Complete recovery from Cryptosporidium parvum infection with gastroenteritis and sclerosing cholangitis after successful bone marrow transplantation in two brothers with X-linked hyper-IgM syndrome

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Summary:

We describe two brothers who suffered from hyper-IgM syndrome (HIGM1) with similar clinical features: recurrent infections, especially cryptosporidium gastroenteritis with cholangitis. Their activated T cells did not express CD40L. Nucleotide sequencing revealed a mutation in both boys with respect to intron 4 and exon 5 boundaries of the CD40L gene in Xq26. They underwent successful bone marrow transplantation (BMT) from HLA-geno-identical siblings. The Cryptosporidium infection and cholangitis resolved thereafter. At 6 months after BMT, expression of CD40L on activated T lymphocytes was normal. After 1 year, both boys are well, and immune reconstitution has improved. Based on these two successful experiences, BMT with a genoidentical sibling seems a reasonable therapeutic approach for HIGM1, if Cryptosporidium infection occurs.

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Acknowledgements

We thank Mrs D Binot Saintot and S Lapuyade for their excellent technical assistance.

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Authors and Affiliations

  1. Unité de Thérapie Cellulaire et Tissus, CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    S Dimicoli, D Bensoussan & J F Stoltz

  2. Laboratoire d’Hématologie Biologique, CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    V Latger-Cannard & T Lecompte

  3. Laboratoire de Biochimie, CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    J Straczek & F Barbe

  4. Laboratoire d’Anatomo-Pathologie, CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    L Antunes

  5. Service de Radiologie Pédiatrique, CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    L Mainard

  6. Laboratoire de Parasitologie et Mycologie CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    A Dao

  7. Service de Médecine infantile 2, CHU de Nancy, Allée du Morvan, Vandoeuvre les Nancy, 54511, France

    C Araujo, L Clément, P Feugier & P Bordigoni

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  1. S Dimicoli
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  2. D Bensoussan
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  3. V Latger-Cannard
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  4. J Straczek
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  5. L Antunes
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  6. L Mainard
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  7. A Dao
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  8. F Barbe
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  9. C Araujo
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  10. L Clément
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  11. P Feugier
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  12. T Lecompte
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  13. J F Stoltz
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  14. P Bordigoni
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Corresponding author

Correspondence to D Bensoussan.

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The first two authors contributed equally to this work

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Dimicoli, S., Bensoussan, D., Latger-Cannard, V. et al. Complete recovery from Cryptosporidium parvum infection with gastroenteritis and sclerosing cholangitis after successful bone marrow transplantation in two brothers with X-linked hyper-IgM syndrome. Bone Marrow Transplant 32, 733–737 (2003). https://doi.org/10.1038/sj.bmt.1704211

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  • DOI: https://doi.org/10.1038/sj.bmt.1704211

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