Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): Molecular characterization of the defect in an index family
نویسندگان
چکیده
منابع مشابه
Reversion 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...
متن کاملLeukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins.
Leukocyte adhesion deficiency (LAD) is characterized by the inability of leukocytes, in particular neutrophilic granulocytes, to emigrate from the bloodstream towards sites of inflammation. Infectious foci are nonpurulent and may eventually become necrotic because of abnormal wound healing. LAD-1 is characterized by the absence of the beta2 integrins (CD11/CD18) on leukocytes. When expression i...
متن کاملLAD-III, a leukocyte adhesion deficiency syndrome associated with defective Rap1 activation and impaired stabilization of integrin bonds.
Recently, we reported a rare leukocyte adhesion deficiency (LAD) associated with severe defects in integrin activation by chemokine signals, despite normal ligand binding of leukocyte integrins.(1) We now report that the small GTPase, Rap1, a key regulator of inside-out integrin activation is abnormally regulated in LAD Epstein-Barr virus (EBV) lymphocyte cells. Both constitutive and chemokine-...
متن کاملReversion 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 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: American Journal of Hematology
سال: 2011
ISSN: 0361-8609
DOI: 10.1002/ajh.22253