Dirk Roos
University of Amsterdam
GeneInternal medicineMolecular biologyPhagocytosisReceptorChemistryImmunologyChronic granulomatous diseaseZymosanNADPH oxidaseSuperoxideCYBBMutationChemotaxisGeneticsBiochemistryMedicineBiologyCell biologyRespiratory burst
Publications 436
#1Ismail YazH-Index: 2
#2Begum OzbekH-Index: 1
Last. Ilhan TezcanH-Index: 36
view all 14 authors...
#1Dirk RoosH-Index: 114
#2Karin van LeeuwenH-Index: 12
Last. Marie José StasiaH-Index: 23
view all 36 authors...
#1Dirk Roos (UvA: University of Amsterdam)H-Index: 114
#2Martin de Boer (UvA: University of Amsterdam)H-Index: 29
Genetic mutations that cause hereditary diseases usually affect the composition of the transcribed mRNA and its encoded protein, leading to instability of the mRNA and/or the protein. Sometimes, however, such mutations affect the synthesis, the processing or the translation of the mRNA, with similar disastrous effects. We here present an overview of mRNA synthesis, its posttranscriptional modification and its translation into protein. We then indicate which elements in these processes are known ...
#1Halil Tuna Akar (Hacettepe University)H-Index: 1
#2Saliha Esenboga (Hacettepe University)H-Index: 8
Last. Ilhan Tezcan (Hacettepe University)H-Index: 36
view all 11 authors...
BACKGROUND Chronic granulomatous disease (CGD), one of the phagocytic system defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex which generates reactive oxygen species (ROS), which are essential for killing pathogenic microorganisms, especially catalase-positive bacteria and fungi. OBJECTIVE The objective of our study was to assess the clinical and laboratory characteristics, treatment modalities, and prognosis of patients with CGD. METHODS We retrospecti...
1 CitationsSource
#1Jérémy Joly (Université Paris-Saclay)H-Index: 1
#2Elodie Hudik (Université Paris-Saclay)H-Index: 5
Last. Sophie Dupré-Crochet (Université Paris-Saclay)H-Index: 8
view all 10 authors...
Neutrophils are the first cells recruited at the site of infections, where they phagocytose the pathogens. Inside the phagosome, pathogens are killed by proteolytic enzymes that are delivered to the phagosome following granule fusion, and by reactive oxygen species (ROS) produced by the NADPH oxidase. The NADPH oxidase complex comprises membrane proteins (NOX2 and p22phox), cytoplasmic subunits (p67phox, p47phox, and p40phox) and the small GTPase Rac. These subunits assemble at the phagosomal me...
2 CitationsSource
#1Deniz Aygun (Istanbul University)H-Index: 4
Last. Yildiz Camcioglu (Istanbul University)H-Index: 25
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BACKGROUND Chronic granulomatous disease (CGD) is a rare genetic disorder characterized by failure of phagocytic leukocytes to destroy certain microbes. We present a study on CGD patients enrolled at a single medical center concerning the infectious and noninfectious complications and genetic properties of the disease. METHODS Icotinamide adenine dinucleotide phosphate oxidase activity and the expression of flavocytochrome b558 were measured by flow cytometry, and clinical outcomes of the patien...
3 CitationsSource
#1Burak Altintas (Hacettepe University)
#2Deniz Cagdas (Hacettepe University)H-Index: 11
Last. Ilhan Tezcan (Hacettepe University)H-Index: 36
view all 6 authors...
#1Martin de Boer (UvA: University of Amsterdam)H-Index: 29
#2Karin van Leeuwen (UvA: University of Amsterdam)H-Index: 12
Last. Dirk Roos (UvA: University of Amsterdam)H-Index: 114
view all 4 authors...
Background: Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase. As a result, the patients cannot generate sufficient amounts of reactive oxygen species required for killing pathogenic microorganisms. Methods: We analyzed NADPH oxidase activity and component expression in neutrophils, performed genomic DNA and cDNA analysis, and used mRNA splicing prediction tools to evaluate the imp...
5 CitationsSource
#1Esmaeil Mortaz (Shahid Beheshti University of Medical Sciences and Health Services)H-Index: 3
#1Esmaeil Mortaz (Shahid Beheshti University of Medical Sciences and Health Services)H-Index: 30
Last. Ian M. Adcock (NIH: National Institutes of Health)H-Index: 122
view all 8 authors...
Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1.5 per 100,000 live births. Mutations have been described in the 5 subunits of NADPH oxidase, mostly in gp91 phox and p47 phox, with fewer mutations reporte...
8 CitationsSource
#1Elham Alipour Fayez (IUMS: Iran University of Medical Sciences)H-Index: 1
#2Zahra Koohini (IUMS: Iran University of Medical Sciences)H-Index: 1
Last. Shahram Teimourian (IUMS: Iran University of Medical Sciences)H-Index: 15
view all 7 authors...
Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare syndrome with infections-among other complications-after Bacillus Calmette-Guerin (BCG) vaccination in children. We focused on the IL-12/IFN-γ pathway to identify new mutations in our patients. This study included 20 patients by vulnerability to mycobacteria and clinical manifestations of severe, recurrent infections. Blood samples were activated with BCG, BCG + IL-12 and BCG + IFN-γ. Cytokine levels were analyzed by ELISA. Measu...
1 CitationsSource