Animal Models of Human Primary Immunodeficiency Diseases


Animals with immunodeficiencies provide useful model systems for the study of corresponding immunological disorders in man. There has been substantial progress made in the availability and numbers of animal models since the 1970s when naturally occurring models were the only source. Improved molecular biology techniques, embryonic stem (ES) cell technologies and the sequencing of whole animal genomes has not only increased the number of models but also has led to improved models, particularly in mice. The increased understanding of the immune system, immune disorders and the generation of novel therapies owes much to animal models of disease. Further work is now in generating larger animal models which in addition to expressing the immunological disorders have a more directly comparable physiology.

Key Concepts:

  • Animal models of human immunodeficiency have been useful in studying the immune system.

  • The phenotypes resulting from genetic defects in animals do not always mirror those seen in humans.

  • Technologies exist to knock‐out, knock‐in and knock‐down relevant genes as well as replace them with human loci in animal models to improve the comparability of the phenotype.

  • Murine models are the most commonly described and used animal models but technologies are being developed for larger animal models.

  • Animal models have been crucial in the development of novel therapies for immunodeficiencies.

Keywords: immunodeficient; animal models; X‐linked; inherited disease; innate and adaptive immune system; knock‐out and knock‐in mice; gene targeting; spontaneous mutation


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Web Links

International Knockout Mouse Consortium

Mouse Genome Informatics

The Jackson Laboratory

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Blundell, Michael P, and Kinnon, Christine(Jun 2012) Animal Models of Human Primary Immunodeficiency Diseases. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0001238.pub2]