Shar Pei autoinflammatory disease (SPAID)
Shar Pei autoinflammatory disease (SPAID)
General description
Breeds
Shar Pei
Order details
Test number | 8642 |
Abbreviation | SPAID |
Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
Test duration | 3-5 working days |
Test specifications
Symptom complex | systemic |
Inheritance | autosomal dominant with variable penetrance |
Age of onset | 1-6 years |
Causality | marker |
Gene | MTBP |
Mutation | G-A |
Literature | OMIA:001561-9615 |
Detailed description
In Shar Pei, sings of inflammation including fever and arthritis are known to be related with a breed-specific predisposition for a syndrome termed Shar-Pei Autoinflammatory Disease (SPAID). SPAID could be characterised by the following varying symptoms: arthritis, dermatitis, otitis, systemic amyloidosis, erythema in the region of the wrinkles, thickened and pasty skin, eye inflammation and recurrent intestinal inflammations. First clinical signs of the disease usually appear at the age of 1 to 6 years. Regarding the complexity of the disease and the variable onset of signs of inflammation, SPAID shows a high similarity to human autoinflammatory diseases like the Familial Mediterranean Fever. A mutation in the so-called MTBP gene has been identified to be highly associated with SPAID in Shar-Pei dogs.