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C3 Deficiency
Breeds
Relevance Rating: There is moderate evidence or research available in this breed
General
Disease Name
C3 Deficiency
OMIA
155
Gene Name
C3
Mutation
c.2136delC
Test Type
Genetic Disease/Disorder
Details
Complement 3 deficiency effects the immune system by a lack of the protein complement component 3 (C3). C3 plays an important role in preventing bacterial infection, and a deficiency results in the body having a greatly reduced immune response, leaving the affected animals susceptible to frequent bacterial infections. Age of onset appears to most commonly be younger dogs, with affected dogs having reoccurring bacterial infections, including pneumonia, urinary tract infections and uterine infections. C3 deficiency predisposes affected dogs to kidney disease early in life, and/or chronic kidney failure.
Details 2
Complement 3 deficiency effects the immune system by a lack of the protein complement component 3 (C3). C3 plays an important role in preventing bacterial infection, and a deficiency results in the body having a greatly reduced immune response, leaving the affected animals susceptible to frequent bacterial infections. Age of onset appears to most commonly be younger dogs, with affected dogs having reoccurring bacterial infections, including pneumonia, urinary tract infections and uterine infections. C3 deficiency predisposes affected dogs to kidney disease (membranoproliferative glomerulonephritis) early in life, and/or chronic kidney failure.
Published
Ameratunga, R., Winkelstein, J.A., Brody, L., Binns, M., Cork, L.C., 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. J Immunol 160:2824-30, 1998. Pubmed reference: 9510185.
Body/System/Process
Autoimmune
OMIA Url
Inheritance
AR
