Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)
نویسندگان
چکیده
منابع مشابه
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
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-...
متن کاملReversion Mutations in Patients with Leukocyte Adhesion Deficiency Type I (lad-i)
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 Mo...
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The hallmarks of leukocyte adhesion deficiency (LAD) are defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. These molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. Over las...
متن کاملprenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations).
leukocyte adhesion deficiency type-1(lad-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrin beta 2 (itgb2) gene. the aim of this study was to investigate molecular prenatal diagnosis of lad-1. four pregnant women with five fetuses (one twin fetus) with clinical and laboratory diagnosis of lad-1 in their previous children were studied. the chori...
متن کاملleukocyte adhesion deficiency type 1 presenting as leukemoid reaction
the hallmarks of leukocyte adhesion deficiency (lad) are defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. these molecular and clinical manifestations result from an impaired step in the inflammatory process, namely, the emigration of leukocytes from the blood vessels to sites of infection, which requires adhesion of leukocytes to the endothelium. over las...
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ژورنال
عنوان ژورنال: Blood
سال: 2008
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2007-04-082552