Search Phenotypes

Immunodeficiency, IL17RA-related

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."

OMIA ID: 2271Inheritance: Häfliger et al. (2020): " Pedigree analysis indicated autosomal recessive inh...Characterised: YesYear: 2020