Canine Leukocyte Adhesion Deficiency (CLAD)
Breed: Irish Red and White Setter
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
GTPs
General
Disease Name
Canine Leukocyte Adhesion Deficiency (CLAD)
OMIA
595
Gene Name
ITGB2
Mutation
c.107G>C
Test Type
Genetic Disease/Disorder
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
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
Gene Name
ITGB2
Mutation
c.107G>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
GTP Disease Synonym
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Gene Name
ITGB2
Mutation
c.107G>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
GTP Disease Synonym
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Gene Name
ITGB2
Mutation
c.107G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 inte
Application in the Breed
Carriers may be bred to normal animals (N/clad x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/clad x N/clad) nor of affected animals (clad/clad). Pups exhibit recurrent infections, slow wound healing , low body weight, lack of appetite, lameness, enlarged longbone growth plates, and fever. Death around 6 months of age.
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
330
GTP Breed
Irish red and white Setter
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
GTP Disease Synonym
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Gene Name
ITGB2
Mutation
c.107G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 inte
Application in the Breed
Carriers may be bred to normal animals (N/clad x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/clad x N/clad) nor of affected animals (clad/clad). Pups exhibit recurrent infections, slow wound healing , low body weight, lack of appetite, lameness, enlarged longbone growth plates, and fever. Death around 6 months of age.
Inheritance
AR
FCI Number
330
GTP Breed
Irish red and white Setter
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
Gene Name
ITGB2
Mutation
c.107G>C
Mutation Comment
g.38537012C>G
Nature of test
mutation test
FCI Number
330
GTP Breed
Irish red and white Setter
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
GTP Disease Synonym
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Gene Name
ITGB2
Mutation
c.107G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 inte
Application in the Breed
Carriers may be bred to normal animals (N/clad x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/clad x N/clad) nor of affected animals (clad/clad). Pups exhibit recurrent infections, slow wound healing , low body weight, lack of appetite, lameness, enlarged longbone growth plates, and fever. Death around 6 months of age.
Inheritance
AR
FCI Number
330
GTP Breed
Irish red and white Setter
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
GTP Disease Synonym
Canine Leukocyte Adhesion Deficiency Type I, CLAD, FLAD, Feline Leukocyte Adhesion Deficiency
Gene Name
ITGB2
Mutation
c.107G>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 inte
Application in the Breed
Carriers may be bred to normal animals (N/clad x N/N) . Offspring should be tested before breeding. No breeding two carriers (N/clad x N/clad) nor of affected animals (clad/clad). Pups exhibit recurrent infections, slow wound healing , low body weight, lack of appetite, lameness, enlarged longbone growth plates, and fever. Death around 6 months of age.
Inheritance
AR
FCI Number
330
GTP Breed
Irish red and white Setter
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type I
Gene Name
ITGB2
Mutation
c.107G>C
Nature of test
mutation test
FCI Number
330
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Veterinary Genetics Laboratory
GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Leukocyte Adhesion Deficiency, Type I
Gene Name
ITGB2
Mutation
c.107G>C
Nature of test
mutation test
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Leukocyte adhesion deficiency, type I
Gene Name
ITGB2
Mutation
c.107G>C
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ITGB2
Mutation
c.107G>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA