OMIA 000595-9685 : Leukocyte adhesion deficiency, type I in Felis catus
Category: Immune system phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: 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.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ITGB2||integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)||Felis catus||C2||NC_058376.1 (1755806..1781525)||ITGB2||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|775||Leukocyte adhesion deficiency, type I||ITGB2||ITGB-2 missing exon 2||deletion, gross (>20)||Naturally occurring variant||Felis_catus_9.0||C2||g.1772101_1772124del||c.46_58+11del||XM_011285804.3; Bauer et al. (2017) "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."||2017||28750142||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|2017||Bauer, T.R., Pratt, S.M., Palena, C.M., Raj, K., Giger, U., Bauer, T.R., Pratt, S.M., Palena, C.M., Raj, K., Giger, U. :|
|Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β<sub>2</sub> (ITGB2) gene. Vet Clin Pathol 46:391-400, 2017. Pubmed reference: 28750142. DOI: 10.1111/vcp.12526.|
- Created by Frank Nicholas on 04 Aug 2017
- Changed by Frank Nicholas on 04 Aug 2017