Chronic sclerosing cholangitis and recurrent pulmonary infections in two brothers associated with cellular immunodeficiency and increased cytokine production

Primary sclerosing cholangitis has occasionally been associated with congenital immunodeficiency. Recently, sclerosing cholangitis has been found in the course of AIDS and cryptosporidium or cytomegalovirus have been observed chronically in the biliary tract, suggesting their role in the evolution to sclerosing cholangitis. We report on 2 brothers with immunodeficiency without any evidence of AIDS, who showed sclerosing cholangitis and recurrent pulmonary infections in the course of their disease. No bacterial microorganism could be cultured from the biliary juice. The serum of both patients contained measurable levels of TNFα. Supernatants from cultured peripheral blood mononuclear cells of the two brothers contained higher amounts of tumor necrosis factor (TNFα), interleukins 1α and 1β than did supernatants from cultures of normal individuals. The role of cytokines as an aggravating factor in immunodeficiency is discussed as well as their role in the inflammatory process.