Categories: Immune system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613953 (trait) , 605461 (gene)

Links to MONDO diseases:

• MONDO:0013500: immunodeficiency 51

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: 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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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 (black and white) (Cattle) (VBO_0000237).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: