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C3 Deficiency
Complement 3 deficiency effects the immune system by a lack of the protein complement component 3 (C3).
  Discussion

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.

  Genetics
Inheritance
AR
OMIA
000155
OMIA Variant
000455
OMIA URL
https://www.omia.org/OMIA000155/9615/
OMIN
608161
Gene
C3
Variants
c.2136delC
Variants Comments
deletion, small (<=20), "a deletion of a cytosine at position 2136 (codon 712), leading to a frameshift that generates a stop codon 11 amino acids downstream"
  Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
  • Updated
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