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Canine Leukocyte Adhesion Deficiency, Type I

Canine Leukocyte Adhesion Deficiency, Type I (CLAD1) is a severe inherited immunodeficiency disorder characterized by dysfunctional white blood cells and recurrent infections.

Affected Genes: ITGB2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr31:37735397: C>G

Breed: Irish Red and White Setter
Irish Setter
Irishdoodle

General Information: Canine Leukocyte Adhesion Deficiency, Type I (CLAD1) affects dogs from a very young age, manifesting as recurrent, severe infections due to an inability of white blood cells to effectively bind and combat pathogens. Puppies often present with persistent infections of the umbilicus, skin, bones, lungs, and more severe cases involve systemic infections and sepsis. Common signs include poor wound healing, persistent elevated white blood cell counts (leukocytosis), gingivitis, enlarged lymph nodes, and stunted growth due to the chronic infections. Without aggressive management, including routine antibiotics, affected dogs rarely survive beyond 6 months due to overwhelming infection.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Testing for Canine Leukocyte Adhesion Deficiency, Type I, (CLAD1) involves analyzing the ITGB2 gene to identify presence of the mutated genetic variant responsible for this condition. CLAD1 is an autosomal recessive disorder requiring two copies of the mutated genetic variant for a dog to be affected. Carrier dogs (those who have inherited only one variant copy) typically do not show symptoms, but breeding two carriers can produce affected pups, with each pup having a 25% chance of developing the disease. Genetic testing is essential for informed breeding practices to prevent the mutation. Breeding of two carrier dogs is not recommended.Non-carrier dogs have no increased risk of producing affected pups from this known variant.

References:
Kijas JM, Bauer Jr. TR, Gafvert S, Marklund S, Trowald-Wigh G, Johannisson A, Hedhammar A, Binns M, Juneja RK, Hickstein DD, Andersson L. A Missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency. Genomics. 1999 61(1):101-107.

Kijas JM, Juneja RK, Gafvert S, Andersson L. Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing. Anim Genet. 2000 31(5):326-328.

Renshaw HW, Davis WC. Canine granulocytopathy syndrome: an inherited disorder of leukocyte function. Am J Pathol. 1979 ;95(3):731-744.

Verfaillie T, Verdonck F, Cox E. Simple PCR-based test for the detection of canine leucocyte adhesion deficiency. Vet Rec. 2004 154(26):821-823.