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

Show simple item record Verfuurden, Barbara Wempe, Floor Reinink, Peter Van Kooten, Peter Martens, Ellen Gerritsen, Rob Vos, Jan H. Rutten, Victor P.M.G. Leegwater, Peter A. 2012-08-10T08:13:20Z 2012-08-10T08:13:20Z 2011-06
dc.description.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 displayed 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 RAG! 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. en
dc.description.librarian ab2012 en
dc.description.uri en
dc.identifier.citation Verfuurden, B, Wempe, F, Reinink, P, Van Kooten, PJS, Martens, E, Gerritsen, R, Vos, JH, Rutten, VPMG & Leegwater, PA 2011, 'Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation', Genes and Immunity, vol. 12, no. 4, pp. 310-313. en
dc.identifier.issn 1466-4879 (print)
dc.identifier.issn 1476-5470 (online)
dc.identifier.other 10.1308/gene.2011.6
dc.language.iso en en
dc.publisher Nature en
dc.relation.requires Adobe Acrobat Reader en
dc.rights © 2011 Macmillan Publishers Limited. All rights reserved. en
dc.subject Frisian water dogs en
dc.subject Wetterhoun en
dc.subject Severe combined immunodeficiency (SCID) en
dc.subject V(D)J recombination en
dc.subject RAG1 mutation en
dc.subject.lcsh Dogs en
dc.subject.lcsh Immunodeficiency en
dc.subject.lcsh Immunoglobulins en
dc.subject.lcsh Lymphocytes en
dc.title Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation en
dc.type Postprint Article en

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