BACKGROUND: Cryptosporidium species infection is usually self-limited in immunocompetent populations, but can be severe and life-threatening among immunocompromised individuals, particularly in patients with AIDS and in these patients with primary immunodeficiencies (PIDs). PATIENTS AND METHODS: A group of 5 patients with genetically confirmed hyper-IgM syndrome type 1 (XHIM) and one patient with primary CD4 lymphopenia were enrolled in the study. At least 2 stool samples and a bile sample in one patient were examined for Cryptosporidium oocysts by a modified Ziehl-Neelsen technique, by immunofluorescence assay using a commercial kit, as well as by molecular analysis followed by genotyping. Immunological status at the time of PID diagnosis and the complex picture of disease are presented. RESULTS: Chronic cryptosporidiosis was confirmed in 3 patients with XHIM and in one patient with primary CD4 lymphopenia. Molecular diagnosis showed the presence of C parvum, C hominis, and C meleagridis in analyzed specimens. CONCLUSIONS: Cryptosporidium infection with serious clinical symptoms observed in patients with hyper-IgM syndrome calls for regular, repeated screening in this group of patients.

Additional Metadata
Keywords Cryptosporidium species, Hyperimmunoglobulin M syndrome, Primary immunodeficiencies, Sclerosing cholangitis
Persistent URL dx.doi.org/10.1097/MPG.0b013e318054b09b, hdl.handle.net/1765/35896
Citation
Wolska-Kusnierz, B, Bajer, A.A, Caccio, S, Heropolitanska-Pliszka, E, Bernatowska, E, Socha, P, … Sinski, E. (2007). Cryptosporidium infection in patients with primary immunodeficiencies. Journal of Pediatric Gastroenterology and Nutrition, 45(4), 458–464. doi:10.1097/MPG.0b013e318054b09b