Dirk Roos

Summary

Affiliation: Sanquin Research
Country: The Netherlands

Publications

  1. ncbi Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)
    Taco W Kuijpers
    Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, The Netherlands
    Blood 101:5021-4. 2003
  2. doi Hematologically important mutations: X-linked chronic granulomatous disease (third update)
    Dirk Roos
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands
    Blood Cells Mol Dis 45:246-65. 2010
  3. ncbi Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)
    Dirk Roos
    Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Blood Cells Mol Dis 44:291-9. 2010
  4. ncbi Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase
    Dirk Roos
    Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:1218-29. 2006
  5. ncbi Oxidative killing of microbes by neutrophils
    Dirk Roos
    Sanquin Research at CLB, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands
    Microbes Infect 5:1307-15. 2003
  6. ncbi Complement receptor 3, not Dectin-1, is the major receptor on human neutrophils for beta-glucan-bearing particles
    Robin van Bruggen
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands
    Mol Immunol 47:575-81. 2009
  7. doi Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B
    Willemijn B Breunis
    Department of Pediatric Hematology, Immunology and Infectious Disease at Emma Children s Hospital, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands
    Hum Mutat 30:E640-50. 2009
  8. doi SIRPα controls the activity of the phagocyte NADPH oxidase by restricting the expression of gp91(phox)
    Ellen M van Beek
    Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, 1066 CX, Amsterdam, The Netherlands
    Cell Rep 2:748-55. 2012
  9. doi Hematologically important mutations: leukocyte adhesion deficiency (first update)
    Edith van de Vijver
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Blood Cells Mol Dis 48:53-61. 2012
  10. pmc Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activity
    Jessica A Sipkens
    Department of Pathology, VU University Medical Centre, Room 0E46, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    Cell Biochem Biophys 67:341-52. 2013

Detail Information

Publications75

  1. ncbi Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)
    Taco W Kuijpers
    Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, The Netherlands
    Blood 101:5021-4. 2003
    ..Current understanding of neutrophil apoptosis and the accompanying functional demise suggests that GSD1b granulocytes are dysfunctional because they are apoptotic...
  2. doi Hematologically important mutations: X-linked chronic granulomatous disease (third update)
    Dirk Roos
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands
    Blood Cells Mol Dis 45:246-65. 2010
    ..This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations...
  3. ncbi Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)
    Dirk Roos
    Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Blood Cells Mol Dis 44:291-9. 2010
    ..This article lists all mutations identified in these genes in the autosomal forms of CGD. Moreover, polymorphisms in these genes are also given, which should facilitate the recognition of future disease-causing mutations...
  4. ncbi Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase
    Dirk Roos
    Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:1218-29. 2006
    ..Family members with either the GT deletion or one of these other mutations were identified as carriers. This knowledge was used in one of the families for prenatal diagnosis...
  5. ncbi Oxidative killing of microbes by neutrophils
    Dirk Roos
    Sanquin Research at CLB, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands
    Microbes Infect 5:1307-15. 2003
    ..Dysfunction of the phagocyte NADPH oxidase results in chronic granulomatous disease, with life-threatening infections...
  6. ncbi Complement receptor 3, not Dectin-1, is the major receptor on human neutrophils for beta-glucan-bearing particles
    Robin van Bruggen
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands
    Mol Immunol 47:575-81. 2009
    ..In summary, our data show that Dectin-1, although indispensable for recognition of beta-glucan-bearing particles in mice, is not the major receptor for yeast particles in human neutrophils...
  7. doi Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B
    Willemijn B Breunis
    Department of Pediatric Hematology, Immunology and Infectious Disease at Emma Children s Hospital, Academic Medical Center, Amsterdam, 1105 AZ, The Netherlands
    Hum Mutat 30:E640-50. 2009
    ..In conclusion, we report a novel CNV of the FCGR3A gene that correlates with FcgammaRIIIa expression and function on NK cells. Only FCGR3A, FCGR2C and FCGR3B show CNV, in contrast to FCGR2A and FCGR2B...
  8. doi SIRPα controls the activity of the phagocyte NADPH oxidase by restricting the expression of gp91(phox)
    Ellen M van Beek
    Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, 1066 CX, Amsterdam, The Netherlands
    Cell Rep 2:748-55. 2012
    ..Thus, SIRPα can limit gp91(phox) expression during myeloid development, thereby controlling the magnitude of the respiratory burst in phagocytes...
  9. doi Hematologically important mutations: leukocyte adhesion deficiency (first update)
    Edith van de Vijver
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Blood Cells Mol Dis 48:53-61. 2012
    ..This last syndrome is caused by mutations in FERMT3, encoding the kindlin-3 protein in all blood cells that is involved in the regulation of β integrin conformation...
  10. pmc Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activity
    Jessica A Sipkens
    Department of Pathology, VU University Medical Centre, Room 0E46, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands
    Cell Biochem Biophys 67:341-52. 2013
    ..The data presented in this article reveal accumulation of nuclear NOX2 and peri-nuclear NOX4 accumulation as potential source of ROS production in Hcy-induced apoptosis in endothelial cells. ..
  11. ncbi Bid truncation, bid/bax targeting to the mitochondria, and caspase activation associated with neutrophil apoptosis are inhibited by granulocyte colony-stimulating factor
    Nikolai A Maianski
    Emma Childrens Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Immunol 172:7024-30. 2004
    ..Together our results support an integrative role of the mitochondria in induction and/or amplification of caspase activity and show that G-CSF may act by blocking Bid/Bax redistribution and inhibiting caspase activation...
  12. doi LAD-1/variant syndrome is caused by mutations in FERMT3
    Taco W Kuijpers
    Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Emma Children s Hospital, Amsterdam, The Netherlands
    Blood 113:4740-6. 2009
    ..Kindlin-3 protein expression was undetectable in the leukocytes and platelets of all patients tested. These results indicate that the LAD1v syndrome is caused by truncating mutations in FERMT3...
  13. doi Mannose-binding lectin (MBL) substitution: recovery of opsonic function in vivo lags behind MBL serum levels
    Nannette Brouwer
    Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Immunol 183:3496-504. 2009
    ....
  14. ncbi Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
    Willemijn B Breunis
    Department of Pediatric Hematology, Immunology and Infectious Disease, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Blood 111:1029-38. 2008
    ..Therefore, we propose that the activating FCGR2C-ORF genotype predisposes to ITP by altering the balance of activating and inhibitory FcgammaR on immune cells...
  15. doi Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease
    Astghik Hayrapetyan
    University of Amsterdam, Amsterdam, The Netherlands
    Biochim Biophys Acta 1832:1662-72. 2013
    ..Thus, at least three different cross-over points exist within the NCF1 gene cluster, indicating that autosomal p47(phox)-deficient CGD is genetically heterogeneous but can be dissected in detail by MLPA. ..
  16. doi Granulocyte concentrates: prolonged functional capacity during storage in the presence of phenotypic changes
    Agata Drewniak
    Sanquin, Research Institute, Academic Medical Centre, University of Amsterdam, Plesmanlaan, 125, 1066 CX Amsterdam, The Netherlands
    Haematologica 93:1058-67. 2008
    ..The aim of this study was to assess the functional characteristics and efficacy of granulocyte colony-stimulating factor/dexamethasone-mobilized granulocytes used for transfusions...
  17. ncbi Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1
    Martin de Boer
    Central Laboratory of the Netherlands Blood Transfusion Service CLB, and Laboratory for Experimental and Clinical Immunology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Prenat Diagn 22:235-40. 2002
    ..Prenatal diagnosis was required in two unrelated families with chronic granulomatous disease (CGD) patients who lacked expression of p47(phox) protein; thus a search for mutations in NCF1 was undertaken...
  18. ncbi Molecular basis of glutathione reductase deficiency in human blood cells
    Nanne M Kamerbeek
    Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands
    Blood 109:3560-6. 2007
    ..Studies on recombinant GR G330A revealed a drastically impaired thermostability of the protein. This is the first identification of mutations in the GR gene causing clinical GR deficiency...
  19. ncbi Natural history and early diagnosis of LAD-1/variant syndrome
    Taco W Kuijpers
    Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Blood 109:3529-37. 2007
    ..Defining the primary defect awaits genetic linkage analysis, which may be greatly helped by a more precise understanding and awareness of the disease combined with the early identification of affected patients...
  20. doi Human NLRP3 inflammasome activation is Nox1-4 independent
    Robin van Bruggen
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, Amsterdam, The Netherlands
    Blood 115:5398-400. 2010
    ..Thus, we provide evidence that activation of the NLRP3 inflammasome does not depend on ROS generated from an NADPH oxidase...
  21. ncbi A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease
    Martin de Boer
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Plesmanlaan 125, 1066 CX, Amsterdam, The Netherlands
    Blood Cells Mol Dis 35:365-9. 2005
    ..This is, as far as we know, the first description of the molecular and clinical consequences of a donor splice site mutation in intron 1 of any gene reported so far...
  22. ncbi Growth factors G-CSF and GM-CSF differentially preserve chemotaxis of neutrophils aging in vitro
    Baruch Wolach
    Sanquin Research at CLB and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Exp Hematol 35:541-50. 2007
    ..The ability of human neutrophils to migrate was studied during culture in vitro...
  23. ncbi Granulocyte colony-stimulating factor inhibits the mitochondria-dependent activation of caspase-3 in neutrophils
    Nikolai A Maianski
    Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Blood 99:672-9. 2002
    ..Moreover, G-CSF exerts its antiapoptotic effect in the first, that is, mitochondria-dependent, route and has no impact on the second...
  24. doi A novel splice variant of FcγRIIa: a risk factor for anaphylaxis in patients with hypogammaglobulinemia
    Joris van der Heijden
    Department of Blood Cell Research, Sanquin Research at CLB and Landsteiner Laboratory, Academic Medical Center AMC, University of Amsterdam, Amsterdam, The Netherlands
    J Allergy Clin Immunol 131:1408-16.e5. 2013
    ..Our index case was a patient with common variable immunodeficiency (CVID). She had anaphylactoid reactions on administration of intravenous immunoglobulin (IVIg) associated with the presence of IgG antibodies against IgA...
  25. ncbi Mannan-binding lectin (MBL)-mediated opsonization is enhanced by the alternative pathway amplification loop
    Nannette Brouwer
    Sanquin Research Academic Medical Centre Landsteiner Laboratory, Amsterdam, The Netherlands
    Mol Immunol 43:2051-60. 2006
    ..In conclusion, our data demonstrate that the MBL-mediated route of complement activation depends on the alternative pathway amplification loop for optimal opsonization of zymosan...
  26. ncbi Mannose-binding lectin (MBL) facilitates opsonophagocytosis of yeasts but not of bacteria despite MBL binding
    Nannette Brouwer
    Sanquin Research and Landsteiner Laboratory, Amsterdam, The Netherlands
    J Immunol 180:4124-32. 2008
    ....
  27. ncbi Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
    Taco W Kuijpers
    Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, The Netherlands
    Blood 103:3915-23. 2004
    ..These neutrophils expose an alternative substrate for annexin-V different from PS and not recognized by macrophages, excluding early clearance as an explanation for the neutropenia...
  28. ncbi H9c2 cardiomyoblasts produce thyroid hormone
    Christof Meischl
    VU University Medical Center, Department of Pathology, Amsterdam, The Netherlands
    Am J Physiol Cell Physiol 294:C1227-33. 2008
    ..In conclusion, our findings demonstrate for the first time that cardiomyocytes produce thyroid hormone in a manner adapted to the cell's environment...
  29. ncbi Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization
    Sigrid H W Beiboer
    Sanquin Research at CLB and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Transfusion 45:667-79. 2005
    ..To increase the direct availability of typed RBCs and PLTs, a high-throughput technique is being developed to genotype the whole donor cohort for all clinically relevant RBC and PLT antigens...
  30. ncbi Two independent killing mechanisms of Candida albicans by human neutrophils: evidence from innate immunity defects
    Roel P Gazendam
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Blood 124:590-7. 2014
    ..These data provide an explanation for the variable clinical presentation of fungal infection in patients suffering from different immune defects, including dectin-1 deficiency, CARD9 deficiency, or chronic granulomatous disease. ..
  31. pmc Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans
    Sanne Vendelbosch
    Sanquin Research and Landsteiner Laboratory, Department of Blood Cell Research, Amsterdam, The Netherlands
    PLoS ONE 8:e67619. 2013
    ....
  32. doi Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene
    Martin de Boer
    Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, 1066 CX, The Netherlands
    Hum Mutat 35:486-96. 2014
    ..However, the mutated allele was not expressed in the patient's mother because the insertion was found only in the methylated fraction of her DNA. ..
  33. doi Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency
    Agata Drewniak
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Blood 121:2385-92. 2013
    ..Taken together, this demonstrates that human CARD9 deficiency results in selective defect in the host defense against invasive fungal infection, caused by an impaired phagocyte killing...
  34. pmc Mitochondrial membrane potential in human neutrophils is maintained by complex III activity in the absence of supercomplex organisation
    Bram J van Raam
    Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Amsterdam, The Netherlands
    PLoS ONE 3:e2013. 2008
    ..We investigated the source of Deltapsi(m) in neutrophils, as compared to peripheral blood mononuclear leukocytes and HL-60 cells, and whether neutrophils can still utilise this Deltapsi(m) for the generation of ATP...
  35. ncbi Continuous translocation of Rac2 and the NADPH oxidase component p67(phox) during phagocytosis
    Robin van Bruggen
    Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, 1066 CX Amsterdam, The Netherlands
    J Biol Chem 279:9097-102. 2004
    ....
  36. ncbi Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations
    Dirk Roos
    Central Laboratory Netherlands Blood Transfusion Service CLB and Laboratory for Experimental and Clinical Immunology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Exp Hematol 30:252-61. 2002
    ....
  37. pmc Complement receptor 3 and Toll-like receptor 4 act sequentially in uptake and intracellular killing of unopsonized Salmonella enterica serovar Typhimurium by human neutrophils
    Robin van Bruggen
    Sanquin Research, Plesmanlaan 125, 1066 CX Amsterdam, The Netherlands
    Infect Immun 75:2655-60. 2007
    ..In sum, our data identify the sequential recognition of unopsonized Salmonella strains by CR3 and TLR4 as essential events in the efficient uptake and killing of this intracellular pathogen...
  38. ncbi Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship
    Taco W Kuijpers
    Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Blood 106:356-61. 2005
    ..CFU-GMs were impaired in all patients tested. From the SBDS sequence data, we conclude that in patients with genetically proven SDS a genotype-phenotype relationship in SDS does not exist in clinical and hematologic terms...
  39. ncbi Neutrophil responsiveness to IgG, as determined by fixed ratios of mRNA levels for activating and inhibitory FcgammaRII (CD32), is stable over time and unaffected by cytokines
    Edwin van Mirre
    Department of Blood Cell Research, Sanquin Research at CLB and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, The Netherlands
    Blood 108:584-90. 2006
    ..4 haplotype of the FCGR2B promoter with increased transcriptional activity in individuals with 1:1 ratios and the more common low-expression 2B.1 haplotype in individuals with FcgammaRIIa/FcgammaRIIb2 mRNA ratios of 2:1, 3:1, or 4:1...
  40. pmc Homocysteine affects cardiomyocyte viability: concentration-dependent effects on reversible flip-flop, apoptosis and necrosis
    Jessica A Sipkens
    Department of Pathology, VU University Medical Centre, Room 0E46, De Boelelaan 1117, Amsterdam, 1081 HV, The Netherlands
    Apoptosis 12:1407-18. 2007
    ..While numerous studies have analyzed the role of homocysteine (Hcy) in the vasculature, only a few studies investigated the role of Hcy in the heart. Therefore we have analyzed the effects of Hcy on isolated cardiomyocytes...
  41. ncbi Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections
    Robin van Bruggen
    Central Laboratory of the Netherlands Blood Transfusion Service CLB, Amsterdam, The Netherlands
    Blood 100:1026-30. 2002
    ..Furthermore, we found that the messenger RNA of G6PD(180-182delTCT) is unstable, which may contribute to the severe G6PD deficiency observed in these patients. We propose the name "G6PD Amsterdam" for this new variant...
  42. ncbi beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays
    Coline H M van Moorsel
    Sanquin Research at CLB and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Eur J Hum Genet 12:567-73. 2004
    ..The flow-through array performed slightly better (96%), but the main advantages of the system included real-time data recording and a considerable time saving achieved through a reduced hybridization time...
  43. pmc Chronic granulomatous disease: the European experience
    J Merlijn van den Berg
    Sanquin Research, and Landsteiner Laboratory, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    PLoS ONE 4:e5234. 2009
    ..These data provide further insight in the clinical course of CGD in Europe and hopefully can help to increase awareness and optimize the treatment of these patients...
  44. ncbi Tumor necrosis factor alpha induces a caspase-independent death pathway in human neutrophils
    Nikolai A Maianski
    Sanquin Research at Central Laboratory of the Netherlands Blood Transfusion Service, Landsteiner Laboratory, and Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Blood 101:1987-95. 2003
    ..Thus, TNF-alpha can induce a "classical," caspase-dependent and a "nonclassical" caspase-independent cell death...
  45. ncbi Plasma levels of mannan-binding lectin in relation to periodontitis and smoking
    Gaia Maffei
    Department of Periodontology, Academic Center for Dentistry Amsterdam, University of Amsterdam and Vrije University, Amsterdam, The Netherlands
    J Periodontol 76:1881-9. 2005
    ..Moreover, it has been suggested that MBL acts as a weak acute phase protein. We investigated whether MBL levels are increased in periodontitis, and we tested whether individuals deficient for MBL are more susceptible to periodontitis...
  46. ncbi Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease
    Dominik Hartl
    Children s Hospital of the Ludwig Maximilians University, Munich, Germany
    J Allergy Clin Immunol 121:375-382.e9. 2008
    ....
  47. ncbi TLR expression on neutrophils at the pulmonary site of infection: TLR1/TLR2-mediated up-regulation of TLR5 expression in cystic fibrosis lung disease
    Barbara Koller
    Children s Hospital of the Ludwig Maximilians University, Munich, Germany
    J Immunol 181:2753-63. 2008
    ..This study demonstrates a novel mechanism of TLR regulation in neutrophils and suggests a critical role for TLR5 in neutrophil-P. aeruginosa interactions in CF lung disease...
  48. ncbi Repression of rac2 mRNA expression by Anaplasma phagocytophila is essential to the inhibition of superoxide production and bacterial proliferation
    Jason A Carlyon
    Section of Rheumatology, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06520 8031, USA
    J Immunol 169:7009-18. 2002
    ..These results directly attribute the inhibition of rac2 and gp91(phox) transcription to the loss of NADPH oxidase activity in A. phagocytophila-infected cells and demonstrate its importance to bacterial intracellular survival...
  49. doi Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients
    Baruch Wolach
    Department of Pediatrics, Meir Medical Center, Kfar Saba, Israel
    Clin Immunol 129:103-14. 2008
    ..Given that bone-marrow transplantation was successful in five of seven patients, it is recommended to perform it as early as possible before tissue damage is irreversible...
  50. ncbi Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB
    Baruch Wolach
    Department of Pediatrics and Laboratory for Leukocyte Function, Meir General Hospital, Kfar Saba, Israel
    Blood 105:61-6. 2005
    ..Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow...
  51. ncbi Expression of myeloperoxidase (MPO) by neutrophils is necessary for their activation by anti-neutrophil cytoplasm autoantibodies (ANCA) against MPO
    Dominique Reumaux
    Département d Hématologie Immunologie Cytogénétique, Centre Hospitalier de Valenciennes, France
    J Leukoc Biol 73:841-9. 2003
    ....
  52. ncbi Application of a human multidrug transporter (ABCG2) variant as selectable marker in gene transfer to progenitor cells
    Olga Ujhelly
    Institute of Hematology and Immunology, National Medical Center, Hungarian Academy of Sciences, Diószegi u 64, H 1113 Budapest, Hungary
    Hum Gene Ther 14:403-12. 2003
  53. ncbi Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells
    Clara Bionda
    GREPI EA 2938, Lab Enzymologie, CHU, Grenoble Cedex 9, 38043, France
    Hum Genet 115:418-27. 2004
    ..Thus, even though the His303Asn mutation has a more severe inhibitory effect on NADPH oxidase activity and assembly than the Pro304Arg mutation, neither mutation can be considered as a polymorphism...
  54. ncbi Diurnal fluctuation of leukocyte G6PD activity. A possible explanation for the normal neutrophil bactericidal activity and the low incidence of pyogenic infections in patients with severe G6PD deficiency in Israel
    Baruch Wolach
    Deparment of Pediatrics, Central Laboratories and the Laboratory for Leukocyte Function, Meir General Hospital, Sapir Medical Center, Kfar Saba, The Sackler School of Medicine, Tel Aviv University, Israel
    Pediatr Res 55:807-13. 2004
    ....
  55. ncbi Functional epitope on human neutrophil flavocytochrome b558
    James B Burritt
    Department of Microbiology, Montana State University, Bozeman, MT 59717, USA
    J Immunol 170:6082-9. 2003
    ..We conclude that the (498)EKDVITGLK(506) segment resides on the cytosolic surface of gp91(phox) and represents a region important for oxidase function, but not substrate or cytosolic component binding...
  56. ncbi Parenteral lipids modulate leukocyte phenotypes in whole blood, depending on their fatty acid composition
    Michelle Versleijen
    Department of Gastroenterology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Clin Nutr 24:822-9. 2005
    ....
  57. ncbi Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report
    Baruch Wolach
    Department of Pediatrics, Meir General Hospital, Kfar Saba, Israel
    Am J Hematol 80:50-4. 2005
    ..Although primary immune deficiencies have been reported to have an increased tendency to develop malignancies, until now there have been no reports of CGD patients with ALL...
  58. ncbi An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3' haplotypes could modify circulating levels of mannose-binding lectin
    Toralf Bernig
    Section on Genomic Variation, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, 20892 4605, USA
    Hum Genet 118:404-15. 2005
    ..Last, there could be a selective advantage for diversification of the 3' region of the gene...
  59. ncbi The search for a genetic defect in Polish patients with chronic granulomatous disease
    Monika Jurkowska
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Arch Immunol Ther Exp (Warsz) 52:441-6. 2004
    ..Among the at least 5 subunits cre-ating a functional NADPH oxidase, a molecular defect located in any of the gp91phox, p22phox, p47phox, or p67phox subunits may cause CGD...
  60. ncbi Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections
    Tom Sprong
    Department of General Internal Medicine, Pediatrics and Intensive Care, Radboud University Nijmegen Medical Centre, 6500 HB, Nijmegen, The Netherlands
    Blood 107:4865-70. 2006
    ..This deficiency abolishes alternative-pathway dependent complement activation by N meningitidis, and leads to an increased susceptibility to invasive meningococcal disease...
  61. ncbi Single-cell optical imaging of the phagocyte NADPH oxidase
    Henk Jan van Manen
    Biophysical Engineering Group, Faculty of Science and Technology, Institute for Biomedical Technology, BMTI, and MESA Institute for Nanotechnology, University of Twente, Enschede, The Netherlands
    Antioxid Redox Signal 8:1509-22. 2006
    ..New microscopy data are presented to illustrate the versatility of Raman and fluorescence microscopy on intact neutrophils...
  62. ncbi Priming by tumor necrosis factor-alpha of human neutrophil NADPH-oxidase activity induced by anti-proteinase-3 or anti-myeloperoxidase antibodies
    Dominique Reumaux
    Faculte des Sciences Pharmaceutiques et Biologiques, Universite de Lille 2, 3 rue du Professeur Laguesse, 59006 Lille Cedex, France
    J Leukoc Biol 80:1424-33. 2006
    ..Our results indicate direct effects of TNF-alpha in facilitating neutrophil activation by these antibodies and further support the importance of cytoskeletal rearrangements in this priming process...
  63. ncbi Immunology. Lethal weapons
    Dirk Roos
    Science 296:669-71. 2002
  64. ncbi Lipid effects on neutrophil calcium signaling induced by opsonized particles: platelet activating factor is only part of the story
    Geert Wanten
    Department of Gastroenterology and Hepatology, University Medical Centre, Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Clin Nutr 23:623-30. 2004
    ....
  65. ncbi Decreased redox state in red blood cells from patients with sarcoidosis
    Snjezana Rothkrantz-Kos
    Dept of Clinical Chemistry, University Hospital Maastricht, The Netherlands
    Sarcoidosis Vasc Diffuse Lung Dis 19:114-20. 2002
    ....
  66. pmc Evidence consistent with human L1 retrotransposition in maternal meiosis I
    Brook Brouha
    Department of Genetics, University of Pennsylvania School of Medicine, 475 Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA 19104, USA
    Am J Hum Genet 71:327-36. 2002
    ..Since the mother carries a potential precursor allele and the insertion was on the patient's maternal X chromosome, it is highly likely that the insertion originated during maternal meiosis I...
  67. ncbi The Rh complex exports ammonium from human red blood cells
    Mirte B Hemker
    Laboratory for Transfusion Science, Bloodbank Rotterdam, Rotterdam, The Netherlands
    Br J Haematol 122:333-40. 2003
    ..In 30 s, normal RBC released 87% of the intracellular methyl-ammonium ions, whereas Rhnull cells of the regulator type released only 46%. We conclude that the Rh complex is involved in the export of ammonium from RBC...
  68. ncbi Resonance Raman imaging of the NADPH oxidase subunit cytochrome b558 in single neutrophilic granulocytes
    Henk Jan van Manen
    Department of Science and Technology, Biophysical Engineering Group, University of Twente, P O Box 217, 7500 AE Enschede, The Netherlands
    J Am Chem Soc 125:12112-3. 2003
    ..As compared to these methods, RR microscopy requires minimal sample preparation and disturbance. Moreover, it allows the determination of the redox state of cytochrome b558 inside the cell, which reflects its NADPH oxidase activity...
  69. ncbi Pathogenesis of diseases associated with antineutrophil cytoplasm autoantibodies
    Dominique Reumaux
    Département d Hématologie Immunologie Cytogénétique, Centre Hospitalier de Valenciennes, Valenciennes, France
    Hum Immunol 65:1-12. 2004
    ..Mechanisms of neutrophil activation by ANCA include the engagement of Fcgamma receptors, the possible mechanisms of neutrophil-mediated tissue damage, and the neutrophil-endothelial interaction...
  70. ncbi Activation of AP-1 through reactive oxygen species by angiotensin II in rat cardiomyocytes
    Shuling Wu
    Institute of Laboratory Medicine and Pathobiochemistry, Charite Medical Center, Humboldt University Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Free Radic Biol Med 39:1601-10. 2005
    ..Together, these findings indicate that Ang-II elicits the activation of the redox-sensitive AP-1 via ROS through AT1, resulting in effects on cardiomyocyte function such as hypertrophy...
  71. ncbi Celiac disease and pulmonary hemosiderosis in a patient with chronic granulomatous disease
    Dominik Hartl
    Dr von Haunersches Kinderspital, Ludwig Maximilians University Munchen, Munchen, Germany
    Pediatr Pulmonol 38:344-8. 2004
    ..Lung function improved markedly by immunosuppression with daily glucocorticosteroid and azathioprine treatment...
  72. ncbi Lymphadenopathy after BCG vaccination in a child with chronic granulomatous disease
    Ana Paula Vieira
    Department of Dermatology, S Marcos Hospital, Apartado 2242, 4701 965 Braga, Portugal
    Pediatr Dermatol 21:646-51. 2004
    ..Although in healthy subjects this vaccination is usually harmless, in instances of impaired immunity it may cause adverse reactions. When a vaccine-related complication occurs, an underlying immunodeficiency should be sought...
  73. ncbi A novel mutation in the DIA1 gene in a patient with methemoglobinemia type II
    Deniz Yilmaz
    Am J Med Genet A 133:101-2. 2005
  74. ncbi Cleavage of CXCR1 on neutrophils disables bacterial killing in cystic fibrosis lung disease
    Dominik Hartl
    Children s Hospital Research Center, Ludwig Maximilians University, Munich 80337, Germany
    Nat Med 13:1423-30. 2007
    ....
  75. ncbi Pro-myeloperoxidase, a target antigen for antineutrophil cytoplasm autoantibodies: comment on the article by Russell et al
    Dominique Reumaux
    Arthritis Rheum 46:1127-9. 2002