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Leukocyte Adhesion Deficiency III (LAD3)

General

Disease Name
Leukocyte Adhesion Deficiency III (LAD3)
OMIA
1525
Gene Name
FERMT3
Gene Name 2
Kindlin-3
Mutation
c.1349_1350insAAGACGGCTGC
Mutation 2
c.1358_1359insAAGACGGCTGCC
OMIM
612840
Disease Code
LAD3
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Details
Leukocyte Adhesion Deficiency III (LAD3) is considered a rare disease. Symptoms include: increased risk of infections, fever, lameness, and abnormal bleeding, including hemorrhage.
Details 2
Leucocyte adhesion deficiencies are inherited disorders characterised by immunodeficiency leading to recurrent infections and a marked leucocytosis. We describe the clinical characteristics... dog was investigated for pyrexia, persistent leucocytosis, marked periodontal disease, lameness, increased mucosal haemorrhages and poor wound healing. Numerous diagnostics were performed including a leucocyte adhesion deficiency III PCR test, which was positive... Leucocyte adhesion deficiency III is a rare disorder that manifests because of impaired activation of beta integrins. This results in an absence of neutrophil chemotaxis and adhesion, and platelet dysfunction... (From Hugo and Heading, 2014)
Published
Boudreaux, Mary K., et al. "A mutation in the canine Kindlin-3 gene associated with increased bleeding risk and susceptibility to infections." Thrombosis and haemostasis 103.2 (2010): 475-477.
Published 2
Hugo, T.B., Heading, K.L. : Leucocyte adhesion deficiency III in a mixed-breed dog. Aust Vet J 92:299-302, 2014. Pubmed reference: 24954630. DOI: 10.1111/avj.12206.
Body/System/Process
Autoimmune
Inheritance
AR
Gene Name Text
Fermitin family homolog 3
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