Gastrointestinal manifestations of primary immunodeficiencies

摘要

Congenital immunodeficiencies are relatively rare disorders that result in a marked predisposition to infection and to a variety of gastrointestinal problems. Increasingly recognized in both children and adults, accumulating worldwide experience with these disorders reveals that the long-term prognosis is poor in many cases, despite available treatments. This review highlights the past year's advances concerning the molecular basis of several of these disorders, new diagnostic considerations, and novel therapeutic approaches concerning their gastrointestinal complications. The availability of molecular diagnostic tools increases the options for earlier definitive treatments such as bone marrow transplantation and somatic gene therapy.