Assessing immune cell (dys)function in human primary immunodeficiencies — Australasian Cytometry Society

Assessing immune cell (dys)function in human primary immunodeficiencies (24127)

Stuart Tangye 1
  1. Garvan Institute, Darlinghurst, NSW, Australia

Lymphocyte development, differentiation and function are requisite for the generation of a functional immune repertoire and also for the elicitation of robust immune responses that result in the long-term protection of the host against infectious pathogens. Defects in these processes result in primary immunodeficiencies (PIDs) which are characterized by increased susceptibility to infection with different pathogens, the outcomes of which range from fatal to life-shortening or long-term prophylaxis. PIDs are usually caused by mutations in single genes and can present as autosomal recessive, autosomal dominate or X-linked traits. Despite the rarity of PIDs, the study of these conditions has provided some of the greatest insights into the functional cellular, molecular and biochemical requirements for host protection against infectious diseases, as well as aspects of immune dysregulation and autoimmunity. In this presentation i will provide an overview of some of our adventures in human PIDs and demonstrate how data obtained from the study of rare individuals can inform us about the pathophysiology of more common diseases of the immune system

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