نتایج جستجو برای: adhesion deficiency syndrome

تعداد نتایج: 816125  

2017
Mark Boras Stephanie Volmering Arne Bokemeyer Jan Rossaint Helena Block Bernadette Bardel Veerle Van Marck Barbara Heitplatz Stefanie Kliche Annegret Reinhold Clifford Lowell Alexander Zarbock

Integrin activation is required for neutrophil functions. Impaired integrin activation on neutrophils is the hallmark of leukocyte adhesion deficiency (LAD) syndrome in humans, characterized by impaired leukocyte recruitment and recurrent infections. The Src kinase-associated phosphoprotein 2 (Skap2) is involved in integrin functions in different leukocyte subtypes. However, the role of Skap2 i...

باغبانی, اشرف, صفری, مژگان,

Introduction: Leukocyte adhesion deficiency type 1 is a rare disorder of function of neutrophils which presents with recurrent bacterial and fungal infections. The patients usually have a history of delayed umbilical cord detachment. Case Report: The patient was a fourteen-month-old boy with recurrent bronchopneumonia, skin abscess and oral candidiasis. There was a history of abscess formati...

Journal: :iranian journal of applied animal science 2015
r.k. patel r. kotikalapudi p.s.s. sunkara

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...

Journal: :Pediatrics 2014
Brittany N Simpson Nancy Hogg Lena M Svensson Alison McDowall William Daley Kilby Yarbrough Omar A Abdul-Rahman

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...

Journal: :Thrombosis and haemostasis 2010
Kerstin Jurk Ansgar S Schulz Beate E Kehrel Daniel Räpple Harald Schulze Dieter Möbest Wilhelm W Friedrich Heymut Omran Erika Deak Reinhard Henschler Jürgen S Scheele Barbara Zieger

Leukocyte adhesion deficiency-III (LAD-III) also called leukocyte adhesion deficiency-1/variant (LAD1v) is a rare congenital disease caused by defective integrin activation of leukocytes and platelets. Patients with LAD-III present with non-purulent infections and increased bleeding symptoms. We report on a novel integrin-dependent platelet dysfunction in two brothers with LAD-III syndrome caus...

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1999

Ashraf Moini, Ladan Hosseini Marzieh Ahmadzadeh Nooshin Shirzad Reihaneh Hosseini, Shahideh Jahanian Sadatmahalleh

Background Given the relationship of vitamin D deficiency with insulin resistance syndrome as the component of polycystic ovary syndrome (PCOS), the main aim of this study was to compare serum level of 25- hydroxyvitamin D [25(OH)D] between PCOS patients and normal individuals. MaterialsAndMethods A cross sectional study was conducted to compare 25(OH)D level between117 normal and 125 untreated...

Journal: :Blood 2007
Taco W Kuijpers Robin van Bruggen Nanne Kamerbeek Anton T J Tool Gonul Hicsonmez Aytemiz Gurgey Axel Karow Arthur J Verhoeven Karl Seeger Ozden Sanal Charlotte Niemeyer Dirk Roos

The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained largely unclear. We present data on 9 cases from 7 unrelated families, with 3 patients being actively followed for more than 12 years. The disease entity, designated LAD-1/...

2003
Ronen Alon Memet Aker Sara Feigelson Maya Sokolovsky-Eisenberg Donald E. Staunton Guy Cinamon Valentin Grabovsky Revital Shamri

Leukocyte arrest on vascular endothelium under disruptive shear flow is a multistep process that requires in situ integrin activation on the leukocyte surface by endothelium-displayed chemoattractants, primarily chemokines. A genetic deficiency of leukocyte adhesion to endothelium associated with defective 2 integrin expression or function (LAD-1) has been described. We now report a novel sever...

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