Autosomal Recessive Severe Combined Immunodeficiency of Jack Russell Terriers
نویسندگان
چکیده
منابع مشابه
SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency.
We recently described the incidence of a SCID disease in a litter of Jack Russell terriers. In this study, we show that the molecular defect in these animals is faulty V(D)J recombination. Furthermore, we document a complete deficit in DNA-dependent protein kinase activity that can be explained by a marked diminution in the expression of the catalytic subunit DNA-dependent protein kinase cataly...
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BACKGROUND The association between patterns of pigmentation and deafness in the dog has a long-documented history, with reports dating back over one hundred years. Long suspected of having a genetic basis, the search for loci with a pronounced influence in the expression of hearing loss in the dog has yet to be successful. No studies in the dog to date have found a possible influence of a speci...
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A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
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Severe combined immunodeficiency is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T-lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. Without intervention, the T and B-cell dysfunction usually results in severe infection and death in ...
متن کاملA KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
BACKGROUND Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier. However, segregation analyses showed differing inheritance modes in these breeds. Recently, molecular genetic studies on the Russell group of terriers found independent mutations in KCNJ10 and CAPN1, each associated with a specific clinic...
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ژورنال
عنوان ژورنال: Journal of Veterinary Diagnostic Investigation
سال: 2002
ISSN: 1040-6387,1943-4936
DOI: 10.1177/104063870201400302