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

doi:doi:10.1038/sj.bmt.1704211

Bone Marrow Transplantation (2003) 32, 733–737. doi:10.1038/sj.bmt.1704211

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

The first two authors contributed equally to this work

S Dimicoli¹, D Bensoussan¹, V Latger-Cannard², J Straczek³, L Antunes⁴, L Mainard⁵, A Dao⁶, F Barbe³, C Araujo⁷, L Clément⁷, P Feugier⁷, T Lecompte², J F Stoltz¹ and P Bordigoni⁷

¹Unité de Thérapie Cellulaire et Tissus, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France
²Laboratoire d'Hématologie Biologique, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France
³Laboratoire de Biochimie, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France
⁴Laboratoire d'Anatomo-Pathologie, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France
⁵Service de Radiologie Pédiatrique, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France
⁶Laboratoire de Parasitologie et Mycologie CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France
⁷Service de Médecine infantile 2, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre les Nancy, France

Correspondence: Dr D Bensoussan, Unite de Therapié Cellulaire et tissus, CHU de Nancy, Allée du Morvan, 54511 Vandoeuvre-Les-Nancy.
E-mail: d.bensoussan@chu-nancy.fr

Received 6 November 2002; Accepted 8 April 2003.

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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.