Leukocyte adhesion deficiency type III in German Shepherds

Leukocyte adhesion deficiency disease (LAD3) is characterized by a lack of leukocyte adhesion during an immune response. The body has impaired immunity to various microorganisms such as fungi, bacteria, and viruses. Consequently, infections are constantly recurring.

The causative mutation for this disease in German Shepherds is a 12 base pair insertion in the gene for FERMT3 (c.1349_1350insAAGACGGCTGCC).

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:

Boudreaux, MK., Wardrop, KJ., Kiklevich, V., Felsburg, P., Snekvik, K. : A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections. Thromb Haemost 103:475-7, 2010. Pubmed reference: 20126836