Foal Immunodeficiency Syndrome
Code: P839
Short description
Foal Immunodeficiency Syndrome (FIS) is a genetic disease that affects the immune system of foals.
General information
Foal Immunodeficiency Syndrome (FIS) is a genetic disease that affects the immune system of foals. It is caused by an autosomal recessive mutation in the sodium/myo-inositol cotransporter gene (SLC5A3).
Foals with FIS appear healthy at birth and remain symptom-free for the first few weeks due to passive immunity acquired from their mother’s colostrum. However, as this immunity fades, exposure to environmental pathogens can lead to the onset of symptoms. FIS is an autosomal recessive disease that affects Fell and Dales ponies, two related British pony breeds.
Specifications
| Breeds | |
|---|---|
| Gene | SLC5A3 |
| Chromosome | 26 |
| Mutation | c.1337G>T |
| Organ | Immune System |
| Specimen | Hair, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | FIS |
Clinical features
FIS is progressive and fatal, onset of symptoms is between 2 and 8 weeks of age. Affected foals develop anemia and show signs such as lethargy, reduced appetite, weakness, diarrhea, poor growth, and inactivity. They often have pale gums, a dull coat, and may develop respiratory symptoms like breathlessness, nasal discharge, and coughing. Secondary infections are common and frequently resistant to treatment. Sadly, most affected foals either die or are euthanized due to the severity of the condition.
References
Pubmed ID: 21750681
Year published: 2011
Omia ID: 1578
Omia variant ID:
Turnaround information
- 15 working days