In other species: dog , taurine cattle , indicine cattle (zebu) , water buffalo

Categories: Immune system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 116920 (trait) , 600065 (gene)

Links to relevant human diseases in MONDO:

• MONDO:0007293: leukocyte adhesion deficiency 1

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2017

Cross-species summary: Affected animals die because of extreme susceptibility to infections, caused by an inability of white blood cells (leukocytes) to pass from the blood stream into infected tissue. This inability is due to the lack of a membrane glycoprotein called the leukocyte integrin beta-2 subunit or CD18.

Species-specific symbol: FLAD

Molecular basis: Bauer et al. (2017): "a 24 bp deletion at the exon 2 to intron 2 boundary (c.46_58 + 11del), predicting premature translational termination due to abnormal splicing of exon 1 to exon 3 or 4"

Clinical features: Bauer et al. (2017): "Feline LAD exhibits features similar to LAD in other species. However, clinical episodes in FLAD appeared milder allowing for an extended life expectancy under long-term antimicrobial therapy, possibly due to an alternative, CD18-independent T-cell proliferation pathway."

Breed: Domestic Longhair.
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: