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Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation

Genes & Immunity volume 12, pages 310–313 (2011)Cite this article

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Abstract

Mortality of pups at 8–12 weeks of age was frequently observed in Frisian Water Dogs. Blood parameters and clinical signs of newborns from three litters were monitored. Three pups from two litters showed strongly reduced levels of immunoglobulins and lymphocytes. These dogs were euthanized after first display of disease. Concurrent clinical and pathological features were consistent with a diagnosis of severe combined immunodeficiency (SCID). Defective V(D)J recombination is one of the causes of SCID in humans and animals. Eight genes involved in V(D)J recombination were investigated by segregation analysis of closely located microsatellite markers and by DNA sequence analysis. A nonsense mutation in the gene coding for V(D)J recombination factor RAG1 was identified in DNA from the cases at a position similar to that of nonsense mutations found in human SCID. It was concluded that SCID due to a mutation of RAG1 led to the high mortality.

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Acknowledgements

We thank Ingrid Visser of the Dutch Foundation for Rare Domesticated Animal Breeds for first referral and Annemarie Lub of the Dutch Association for Staby and Wetterhounen for pedigree information. We thank the breeders and owners of the included dogs for their cooperation.

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Authors and Affiliations

  1. Department of Clinical Sciences of Companion Animals, Utrecht University, Utrecht, The Netherlands

    B Verfuurden, F Wempe, E Martens & P A Leegwater

  2. Department of Infectious Diseases and Immunology, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands

    B Verfuurden, F Wempe, P Reinink, P J S van Kooten & V P M G Rutten

  3. Veterinary Specialist Group De Kompaan, Ommen, The Netherlands

    R Gerritsen

  4. Animal Health Service Ltd, Deventer, The Netherlands

    J H Vos

  5. Department of Veterinary Tropical Diseases, Faculty of Veterinary Science, University of Pretoria, Pretoria, South Africa

    V P M G Rutten

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  1. B Verfuurden
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Correspondence to P A Leegwater.

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Verfuurden, B., Wempe, F., Reinink, P. et al. Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12, 310–313 (2011). https://doi.org/10.1038/gene.2011.6

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