Maródi L, Casanova JL. J Intern Med 2009;266:502–6.
Recent findings in a range of diseases, including atypical hemolytic uremic syndrome, Crohn’s disease, and alveolar proteinosis, provide evidence to suggest that these conditions may be primary immunodeficiencies. This review article discusses the relevant features of these three diseases.
Although primary immunodeficiency disorders (PIDs) are typically pediatric diseases, their recognition in adults is increasing, probably as a consequence of delayed-onset forms. PIDs account for a broad set of human diseases that affect a range of different organ systems. Typical manifestations are infectious, autoimmune, allergic, or neoplastic. In this article, Maródi and Casanova describe how atypical hemolytic uremic syndrome (aHUS), Crohn’s disease, and pulmonary alveolar proteinosis (PAP) may be manifestations of the immune system’s failure to maintain immune homeostasis and to react properly to foreign antigens.