X-linked hyper IgM (CD40L deficiency) - Patients are at risk for developing sclerosing cholangitis due to Cryptosporidium infection. This serious complication may necessitate a liver transplantation and can be a significant cause of death in older patients with this disease.
AR Hyper IgM syndrome (CD40 deficiency) -Similar to patients with CD40L deficiency, Cryptosporidium infections and sclerosing cholangitis have been reported in patients with CD40 deficiency.
MHC Class II deficiency - Patients develop sclerosing cholangitis secondary to Cryptosporidium at high frequency (>50% of patients). It represents a major factor in prognosis of the disease.
CVID - Sclerosing cholangitis has been reported in patients with this disease. However, it is not a typical complication.
Other Serious T Cell Immunodeficiencies
Other serious T cell immunodeficiencies - Sclerosing cholangitis has been reported in other combined immunodeficiencies such as Wiskott-Aldrich syndrome and SCID. Defective T cell immunity increases susceptibility to Cryptosporidium and thus sclerosing cholangitis.