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Primary Antibody Deficiencies
Primary antibody deficiencies (PADs) are the most common primary (i.e. genetic) immunodeficiencies representing over 60% of the total primary immunodeficiency cases. PADs represent a wide spectrum of disorders, from complete absence of immunoglobulins to antigen-specific defects with normal quantitative levels. Generally, the more severe the deficit in antibody production, the earlier the disease presents in life. In this lecture we will mainly focus on agammaglobulinemia and hyper-IgM syndrome that present in childhood, and common variable immunodeficiency that can be diagnosed from childhood to late in life. We will discuss the difficulty of differential diagnosis, and how novel molecular technologies allowing testing for multiple genes simultanously can help with the diganosis.
Originally presented July 16, 2013 in Jackson, Wyoming.
Attila Kumanovics, 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.
After this presentation, participants will be able to:
- Define and classify primary antibody deficiencies.
- Review the role of clinical laboratory in the diagnosis of primary antibody deficiencies.
- Demonstrate the utility of molecular diagnosis in primary antibody deficiencies.
- Review the genetics of: 1. Agammaglobulinemia 2. Hyper-IgM syndrome 3. Common Variable Immunodeficiency.
University of Utah School of Medicine, University of Utah Department of Pathology, and ARUP Laboratories