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.

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Journal of Pediatric Gastroenterology and Nutrition
Erasmus MC: University Medical Center Rotterdam

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