X-linked Hyper IgM (CD40L deficiency) - Patients are at risk for developing gastrointestinal infections with Cryptosporidium (most commonly causing a watery diarrhea). Sclerosing cholangitis is a serious complication of this infection that can result in terminal liver damage and premature mortality
Autosomal recessive Hyper IgM syndrome - Similar to patients with CD40L deficiency, Cryptosporidium infections and sclerosing cholangitis has been reported in patients with this disease.
MHC Class II deficiency - Progressive hepatic failure from ascending cholangitis due to Cryptosporidium infection occurs in over 50% of patients.
DOCK8 deficiency- Ascending cholangitis due to Cryptosporidium has been described in this disease and likely reflects underlying T cell immunodeficiency .