Reversion Mutations in Patients with Leukocyte Adhesion Deficiency Type I (lad-i)
نویسندگان
چکیده
Laboratory Clinical Infectious Diseases, NIAID, NIH, Bethesda, MD, USA MRC Immunohistochemistry Unit, Department of Biochemistry, University of Oxford, UK Servicio de Inmunologia, Hospital Nacional de Pediatria J. P. Garrahan, Buenos Aires, Argentina Department Of Medicine, Duke University Medical Center, Durham, NC, USA Laboratory of Host Defenses, NIAID, NIH, Bethesda, MD, USA Genetics and Molecular Biology Branch, NHGRI, NIH, Bethesda, MD 20892, USA Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, School of Biological Sciences, Nanyang Technological University, Singapore
منابع مشابه
Periodontal Involvement in Leukocyte Adhesion Deficiency: Review of the Literature and a Case Report
Objective: Leukocyte adhesion deficiency(LAD) is a scarce, autosomal recessive inherited disorder . LAD-I which is the most common type occurs due to mutations on the CD18 gene. This mutation leads to absence or severe reduction of leukocyte cell surface expression of ß2 integrin molecules which are necessary for the adhesion of the leukocytes to the endothelial cells, transendothelial mi...
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Leukocyte adhesion deficiency type-1 (LAD-1) is an autosomal recessive immunodeficiency caused by mutations in the beta2 integrin, CD18, that impair CD11/CD18 heterodimer surface expression and/or function. Absence of functional CD11/CD18 integrins on leukocytes, particularly neutrophils, leads to their incapacity to adhere to the endothelium and migrate to sites of infection. We studied 3 LAD-...
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The β2 integrins are expressed exclusively on leukocytes and participate in many immune and inflammatory processes. This subfamily comprises four heterodimeric glycoproteins with a common β-subunit, designated β2 (CD18). Spontaneous mutations of the CD18 gene result in leukocyte adhesion deficiency type I (LAD-I). Low level of CD18 expression has also been implicated in the pathogenesis of psor...
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Leukocyte adhesion deficiency type I (LAD-I), a disease syndrome associated with frequent microbial infections, is caused by mutations on the CD18 subunit of β₂ integrins. LAD-I is invariably associated with severe periodontal bone loss, which historically has been attributed to the lack of neutrophil surveillance of the periodontal infection. We provide an alternative mechanism by showing that...
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