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Complement 3 Deficiency

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Test Overview:

Complement 3 deficiency is a disorder of the immune system affecting the Brittany that is characterized by a lack of the protein complement component 3. Complement component 3 (C3) plays an important role in preventing bacterial infection. C3 deficiency most commonly affects younger dogs and affected dogs will present with reoccurring bacterial infections, including pneumonia, urinary tract infections and uterine infections. C3 deficiency predisposes affected dogs to kidney disease early in life which can lead to chronic kidney failure and death.

Category:

Immunologic - Associated with the organs and cells of the immune system

Gene:

C3

Variant Detected:

chr20:53573746 (canFam3): 1 bp deletion (del C)

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Ameratunga R, Winkelstein JA, Brody L, Binns M, Cork LC, Colombani P, Valle D. Molecular analysis of the third component of canine complement (C3) and identification of the mutation responsible for hereditary canine C3 deficiency. Journal of Immunology. 1998; 160: 2824-2830. [not in PubMed] Cork LC, Morris JM, Olson JL, Krakowka S, Swift AJ, Winkelstein JA. Membranoproliferative glomerulonephritis in dogs with a genetically determined deficiency of the third component of complement. Clin Immunol Immunopathol. 1991 Sep; 60(3):455-70. [PubMed: 1864020] Johnson JP, McLean RH, Cork LC, Winkelstein JA. Genetic analysis of an inherited deficiency of the third component of complement in Brittany spaniel dogs. Am J Med Genet. 1986 Nov; 25(3):557-62. [PubMed: 3789016]

Associated Breed(s):

Brittany Spaniel , Mixed Breed,

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