Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β2 (ITGB2 ) gene
نویسندگان
چکیده
منابع مشابه
Detection of New Silent Mutation at 348 bp Position in a CD18 Gene in Holstein Cattle Normal and Heterozygous for Bovine Leukocyte Adhesion Deficiency Syndrome
In India, Holstein and its crosses are being used extensively in breeding programmes and all these breeding bulls are screened for autosomal recessive genes. Blood samples are collected in ethylenediaminetetraacetic acid (EDTA) coated tubes and DNA was isolated by using phenol-chloroform method. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) wereperformed by using...
متن کاملTwo novel frame shift, recurrent and de novo mutations in the ITGB2 (CD18) gene causing leukocyte adhesion deficiency in a highly inbred North African population
We have identified four different mutations causing leukocyte adhesion Deficiency (LAD) in the ITGB2 gene of patients from a highly inbred population. Two were novel single-bp deletions (1497delG and 1920delG) causing frame shift and the two others were the missense mutations G284S and R593C. In our study, the G284S was a recurrent mutation while the R593C occurred de novo. We have also charact...
متن کاملA new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis.
Leukocyte adhesion deficiency (LAD) I is a well-described genetic disorder in which leukocytes are unable to migrate to sites of inflammation due to mutations in the ITGB2 gene coding for the β subunit of β2 (CD18) leukocyte integrins. The classic symptoms of the disease present in the newborn period as failure of separation of the umbilical cord and recurrent bacterial infections, which contin...
متن کاملRetroviral-mediated gene transfer of the leukocyte integrin CD18 into peripheral blood CD34+ cells derived from a patient with leukocyte adhesion deficiency type 1.
Leukocyte adhesion deficiency or LAD is a congenital immunodeficiency disease characterized by recurrent bacterial infections in which the leukocytes from affected children fail to adhere to endothelial cells and migrate to the site of infection due to heterogeneous defects in the leukocyte integrin CD18 subunit. To assess the feasibility of human gene therapy of LAD, we transduced granulocyte ...
متن کاملRAPID COMMUNICATION Retroviral-Mediated Gene Transfer of the Leukocyte Integrin CD18 Into Peripheral Blood CD341 Cells Derived From a Patient With Leukocyte Adhesion Deficiency
Leukocyte adhesion deficiency or LAD is a congenital immunodeficiency disease characterized by recurrent bacterial infections in which the leukocytes from affected children fail to adhere to endothelial cells and migrate to the site of infection due to heterogeneous defects in the leukocyte integrin CD18 subunit. To assess the feasibility of human gene therapy of LAD, we transduced granulocyte ...
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ژورنال
عنوان ژورنال: Veterinary Clinical Pathology
سال: 2017
ISSN: 0275-6382
DOI: 10.1111/vcp.12526