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Leukocyte adhesion deficiency (LAD) is an autosomal recessive immunodeficiency.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

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.

Clinical features

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.

Additional information

References

Pubmed ID: 28750142

Omia ID: 595

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