OMIA 000595-9685 : Leukocyte adhesion deficiency, type I in Felis catus

In other species: dog , cattle , water buffalo

Possibly relevant human trait(s) and/or gene(s) (MIM number): 116920

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.

Associated gene:

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_018731.3 (1762922..1788480) ITGB2 Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Leukocyte adhesion deficiency, type I ITGB2 ITGB-2 missing exon 2 deletion, gross (>20) ICGSC Felis_catus_8.0 C2 g.1715627_1715650delGCCCTCTGGT c.46_58 + 11del 2017 28750142

Reference


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.

Edit History


  • Created by Frank Nicholas on 04 Aug 2017
  • Changed by Frank Nicholas on 04 Aug 2017