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A recessive IL17RA frameshift variant in Holstein cattle with psoriasis-like skin alterations and immunodeficiency.

I. M. Häfliger



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A recessive IL17RA frameshift variant in Holstein cattle with psoriasis-like skin alterations and immunodeficiency.
I. M. Häfliger*1, M. Sickinger2, M. Holsteg3, L. M. Raeder4, M. Henrich4, S. Marquardt5, C. Drögemüller1, G. Lühken6. 1Institute of Genetics, University of Bern Bern, Switzerland, 2Clinic for Ruminants (Internal Medicine and Surgery), Justus-Liebig University Giessen Giessen, Germany, 3Animal Health Service, Chamber of Agriculture of North Rhine-Westphalia Bad Sassendorf, Germany, 4Institute of Veterinary Pathology, Justus-Liebig University Giessen Giessen, Germany, 5Veterinary Sharing Practice Dr. Siegfried Marquardt und Peter Walter Goch, Germany, 6Institute of Animal Breeding and Genetics, Justus-Liebig University Giessen Giessen, Germany.

Skin lesions and dermatoses in cattle are often associated with infections. Inherited skin disorders or genodermatoses are primary congenital disorders or dermatoses that are associated with nutritional deficiencies, e.g., bovine hereditary zinc deficiency or zinc-deficiency-like syndrome. We observed 3 German Holstein cases with skin lesions that resemble zinc deficiency-like syndrome. Clinical blood analysis showed leukocytosis with neutrophilia indicating inflammation and pathology revealed severe ulcerative dermatitis with hyperkeratosis, alopecia furunculosis and subcutaneous abscess formation. The origin of all affected calves from a single sire and the same maternal grand sire let to the assumption of a potential recessive defect. Due to the suspected genetic background, whole-genome sequencing of 2 of the affected Holstein calves was performed. Genetic analyses delivered several variants shared by both affected animals, however, comparison with the current 1000 Bull Genomes variant catalog resulted in a single protein-changing variant private to the 2 cases. This single-nucleotide deletion in exon 3 of IL17RA on bovine chromosome 5 was predicted to have a deleterious impact on the encoded protein due to a frameshift. Healthy mothers of affected calves as well as some other relatives were determined to be heterozygous for this most likely pathogenic variant by Sanger sequencing, confirming the assumed autosomal recessive inheritance. In man, rare diseases are associated with IL17RA include immunodeficiency 51 and chronic mucocutaneous candidiasis. The frequency of the recessive loss-of-function variant in IL17RA needs to be analyzed within the German and global Holstein population.

Keywords: monogenic, genodermatoses, rare disease.