Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613953 (trait) , 605461 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0013500: immunodeficiency 51

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2020

Inheritance: Häfliger et al. (2020): " Pedigree analysis indicated autosomal recessive inheritance. . . . Genotyping of the affected cattle family [with the IL17RA c.180delC variant] confirmed recessive inheritance"

Molecular basis: Häfliger et al. (2020): "Variant calling and filtering against the 1000 Bull Genomes variant catalogue resulted in the detection of a single homozygous protein-changing variant exclusively present in both sequenced genomes. 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 leading to a truncated gene product."

Clinical features: Häfliger et al. (2020): "The two calves showed retarded growth and suffered from severe ulcerative dermatitis with hyperkeratosis, alopecia furunculosis and subcutaneous abscess formation. Blood analysis showed correspondent leukocytosis with neutrophilia whereas minerals, macro- and micronutrients were within the reference ranges. . . . This IL17RA-associated semi lethal genodermatosis, leading to psoriasis-like skin alterations and immunodeficiency resembling zinc deficiency-like syndrome in Holstein cattle, was not reported before."

Breed: Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: