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Leukocyte adhesion deficiency (LAD) is an autosomal recessive immunodeficiency.
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Specificaties
Breeds | |
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Gene | |
Organ | |
specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
Mode of Inheritance | |
Chromosome | |
Also known as | |
Year Published |
Algemene informatie
Leukocyte adhesion deficiency (LAD) is an autosomal recessive immunodeficiency. The disease is caused by mutations in the integrin β2 subunit (ITGB2) gene, which results in the deficiency of the CD18 β-subunit. A heterodomer is formed with one of the 4 different CD11 α-subunit due to the deficieny.
Klinische eigenschappen
Clinical features are omphalitis, juvenile periodontitis with loss of teeth, chronic and recurrent overwhelming bacterial infections poorly responsive to antibiotic therapy, and impaired pus formation and wound healing.
Extra informatie
Feline LAD exhibits features similar to LAD in other infected species. Nevertheless, feline LAD indicated a decrease of extended life expectancy under long-term antimicrobial thereapy, which can be caused due to an alternative, CD18-independent T-cell proliferation pathway.
Referenties
Pubmed ID: 28750142
Omia ID: 595