Insight into the challenges in diagnosis and management of infections in adults with primary immunodeficiency diseases: A study from AIIMS, New Delhi

Primary immunodeficiency diseases (PIDDs) comprise a group of genetic disorders which are characterized by abnormalities involving one or more components of the immune system. Most of them are diagnosed in children and adolescents. Advancement in medical management has resulted in most of these patients living till adulthood. Moreover, few PIDD patients are diagnosed for the first time in their adulthood. In most of the developing countries, where the prevalence of infectious disease is quite high, diagnosis of patients presenting in adulthood with PIDDs poses a major challenge. The diagnosis may be delayed or even missed altogether when they present late in adulthood. Hence, having in-depth knowledge regarding common PIDDs seen in this age group, the natural course of these diseases and the wide range of clinical spectrum with which these patients can present is quite imperative for a physician dealing with such patients. This case series provides the details of three such PIDD patients presenting in the late adolescence and adult age group, along with a comprehensive review on the common and uncommon infections occurring among PIDD patients in this age group.