Leukocyte and Immunodeficiencies Studies

Immunodeficiency disorders are caused by defects in the host defense and immune response against microorganisms, resulting in increased susceptibility to infectious diseases. Primary immunodeficiencies also known as hereditary or congenital immunodeficiencies are genetically determined abnormalities in the morphology, maturation, and/or function of leukocytes (white blood cells) or the barrier system. Key clinical features include:

• Recurrent and chronic protracted course of infection
• Infection with common non-pathogenic or unusual infectious agents
• Very severe and often atypical infectious disease presentation
• Delayed, incomplete or lack of response to antimicrobial therapy
• Juvenile onset, sometimes not recognized until adulthood
• Growth failure, bleeding and allergy tendency

Primary immunodeficiency represent a large heterogeneous group of diseases. The Section of Medical Genetics has discovered and characterized several immunodeficiencies and has access to a variety of immunologic tests. For instance, severe x-chromosomal combined immunodeficiency (X-SCID, common gamma chain deficiency) has been characterized in the Basset and Welsh Corgi and a DNA test has been developed by the Section of Medical Genetics. This disease may also occur in other breeds.

Only on prearranged date. Please contact Dr. Peter Felsburg (215) 898-6678.