Severe combined immunodeficiency disease (SCID) in Frisian Water Dogs

Severe Combined Immunodeficiency Diseases (SCID) is a serious inherited disease affecting the body's immunity. Affected individuals have significantly reduced levels of immunoglobulins and lymphocytes and are thus extremely susceptible to a wide range of pathogens. The consequence is a high mortality of puppies at 8-12 weeks of age.

In the Friesian Water Dog, this condition is caused by the nonsense mutation c.2893G>T in the RAG1 gene.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

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References:

Verfuurden, B., Wempe, F., Reinink, P., van Kooten, PJ., Martens, E., Gerritsen, R., Vos, JH., Rutten, VP., Leegwater, PA.: Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation. Genes Immun 12:310-3, 2011. Pubmed reference: 21293384