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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Authors: | Dimicoli S Bensoussan D Latger-Cannard V Straczek J Antunes L Mainard L Dao A Barbe F Araujo C Clément L Feugier P Lecompte T Stoltz J F Bordigoni P |
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Institution: | Unité de Thérapie Cellulaire et Tissus, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France. |
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Abstract: | 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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