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Canine Leukocyte Adhesion Deficiency (CLAD)

General

Disease Name
Canine Leukocyte Adhesion Deficiency (CLAD)
Disease Name 2
Leukocyte Adhesion Deficiency, Type I
OMIA
595
Gene Name
ITGB2
Mutation
c.107G>C
OMIM
116920
Disease Code
CLAD
Disease Code 2
LAD1
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Details
Canine Leukocyte Adhesion Deficiency (CLAD), this rare but devastating condition is an inherited fatal immunodeficiency disease.This disorder affects the white blood cells ability to fight infection and is caused by misshapen proteins being formed on the surface of white blood cells. These proteins usually help the white blood cells to stick to each other and other cells in order to initiate an immune response to fight infections. Affected puppies white blood cells will not be as sticky and will not be able to fight infections as effectively. Age of onset is from birth. CLAD is characterized by recurrent, severe bacterial infections; impaired pus formation; and delayed wound healing. Infected animals usually have severe pyrexia (fever), loss of appetite and weight loss; response to antibiotic therapy is usually poor. Pups that inherit two recessive genes for CLAD usually die early in life from multiple severe infections, even when treated with massive doses of antibiotics.
Details 2
Canine Leukocyte Adhesion Deficiency (CLAD), this rare but devastating condition is an inherited fatal immunodeficiency disease.This disorder affects the white blood cells ability to fight infection and is caused by misshapen proteins being formed on the surface of white blood cells. These proteins usually help the white blood cells to stick to each other and other cells in order to initiate an immune response to fight infections. Affected puppies white blood cells will not be as sticky and will not be able to fight infections as effectively. Age of onset is from birth. CLAD is characterized by recurrent, severe bacterial infections; impaired pus formation; and delayed wound healing. Infected animals usually have severe pyrexia (fever), recurrent infections, neonatal omphalophlebitis, anorexia, lameness, impaired wound healing, severe skin infections, gingivitis, salivation, thickened mandible, enlarged metaphyses of the distal radius, ulna, tibia, and fibula, lameness, enlarged lymph nodes, and low body weight. Response to antibiotic therapy is usually poor. Pups that inherit two recessive genes for CLAD usually die early in life from multiple severe infections, even when treated with massive doses of antibiotics.
Patents/ Licences
Licenses held: Optigen. Test Developers: Swedish University in Uppsala, Sweden (Publication: 1) (please note that patent and licensing laws and coverage vary by country)
Published
Kijas, J.M.H., Bauer, T.R., Gafvert, S., Marklund, S., Trowald-Wigh, G., Johannisson, A., Hedhammar, A., Binns, M., Juneja, R.K., Hickstein, D.D., Andersson, L.: A missense mutation in the beta-2 integrin gene (ITGB2) causes canine leukocyte adhesion deficiency Genomics 61:101-107, 1999. Pubmed reference: 10512685. DOI: 10.1006/geno.1999.5948.
Published 2
Zimmerman, K.L., McMillan, K., Monroe, W.E., Sponenberg, D.P., Evans, N., Makris, M., Hammond, S.H., Kanevsky Mullarky, I., Boudreaux, M.K. : Leukocyte adhesion deficiency type I in a mixed-breed dog. J Vet Diagn Invest 25:291-6, 2013. Pubmed reference: 23417082. DOI: 10.1177/1040638713478814.
Body/System/Process
Autoimmune
Inheritance
AR
Gene Name Text
CLAD: Integrin ?-2
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