X-linked severe combined immunodeficiency is a rare immune disorder. The main symptoms are lymphopenia, absence of palpable peripheral lymph nodes, small thymic size and T cells that are unresponsive to proliferative stimulation due to low or absent IgG and IgA antibodies. Other signs include diarrhoea and vomiting. The affected puppies are exposed to chronic recurrent infections which are lethal in the combination with immunodeficiency. Male puppies that are free of the disease do not carry the mutation and can be bred, while female puppies can be healthy but can carry a mutation.

Inheritance: X-linked recessive - read more

Mutation: IL2RG gene

Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.

Disease control: read more

DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.