Connect Sign InMost immunodeficiencies leading to increased susceptibility to infections seen in clinical practice are secondary to other diseases, such as infections (e.g. HIV) and malignancies (e.g. Multiple Myeloma), or are iatrogenic (e.g. immunosuppressive drugs). Primary immunodeficiency diseases (PIDD) are thought to be genetic in origin. There are now over 150 PIDD recognized, and their number is still growing. Most of these diseases are individually rare, but as group they have an estimated prevalence of 1:1200 in the USA, similar to acute leukemias. Diagnosis of PIDDs requires integration of data from clinical findings with laboratory immunological analyses and increasingly with genetic testing. In this presentation we discuss the utility of molecular diagnosis in immunodeficiency diseases, and then review specific examples of genetic susceptibility to bacterial, fungal and viral infections. Immunodeficiencies are often though to lead to ‘opportunistic’ infections. The diseases presented demonstrated that PIDDs can lead to very specific infections.
Presented by
Attila Kumánovics, MD
Assistant Professor, Department of Pathology, Spencer Fox Eccles School of Medicine at the University of Utah
Assistant Medical Director, Immunology Laboratory, Co-Director, Immunogenetics Laboratory, ARUP Laboratories
