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.
Fiche publication
Date publication
octobre 2003
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FEUGIER Pierre
Tous les auteurs :
Dimicoli S, Bensoussan D, Latger-Cannard V, Straczek J, Antunes L, Mainard L, Dao A, Barbe F, Araujo C, Clement L, Feugier P, Lecompte T, Stoltz JF, Bordigoni P
Lien Pubmed
Résumé
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.
Référence
Bone Marrow Transplant. 2003 Oct;32(7):733-7.