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Genetic Susceptibility to Infectious Diseases

 

Most 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.

Originally presented on July 18, 2013, in Salt Lake City, Utah.

Lecture Presenter

Attila Kumánovics, MD

Attila Kumánovics, MD

Assistant Medical Director, Immunology Laboratory
ARUP Laboratories
Co-Director, Immunogenetics Laboratory
ARUP Laboratories
Assistant Professor of Pathology
University of Utah School of Medicine

Dr. Kumanovics is an assistant medical director of the Immunology Laboratory and co-director of the Immunogenetics Laboratory at ARUP Laboratories, as well as an assistant professor of pathology at the University of Utah School of Medicine. Dr. Kumanovics received his MD at the University of Pecs Medical and Health Sciences Centre in Hungary. He completed postdoctoral research fellowships at the University of Utah School of Medicine, University of Texas Southwestern Medical Center, and Howard Hughes Medical Institute, and served as a clinical pathology resident, an immunology fellow, and a molecular genetic pathology fellow at the University of Utah School of Medicine. Dr. Kumanovics is board certified in clinical pathology by the American Board of Pathology and molecular genetic pathology by the American Board of Medical Genetics and American Board of Pathology.

Objectives

After this presentation, participants will be able to:

  • Define and classify primary immunodeficiency diseases.
  • Review the role of clinical laboratory in the diagnosis of primary immunodeficiency diseases.
  • Demonstrate the utility of molecular diagnosis in primary immunodeficiency diseases.
  • Review the genetics of: 1. Mendelian susceptibility to chronic mucocutaneous candidiasis. 2. Mendelian susceptibility to mycobaterial infections. 3. Herpes simples encephalitis.

Sponsored by:

University of Utah School of Medicine, and ARUP Laboratories