REVIEWS ON CGD
Advances in the treatment of Chronic Granulomatous Disease by gene therapy. Curr Gene Ther. 2007 Jun; 7(3):155-61. Review. Ott MG, Seger R, Stein S, Siler U, Hoelzer D, Grez M.
Progress and prospects: gene therapy clinical trials/CGD (part 1). Gene Ther. 2007 Oct;14(20):1439-47. Review. Alexander BL, Ali RR, Alton EW, Bainbridge JW, Braun S, Cheng SH, Flotte TR, Gaspar HB, Grez M, Griesenbach U, Kaplitt MG, Ott MG, Seger R, Simons M, Thrasher AJ, Thrasher AZ, YIa-Herttuala S.
Gene therapy for chronic granulomatous disease. Curr Opin Mol Ther. 2006 Oct;8(5):415-22. Review. Stein S, Siler U, Ott MG, Seger R, Grez M.
Chronic Granulomatous Disease; fundamental stages in our understanding of CGD. Med Immunol. 5: 4; 2006.
Tracy Assari. This article is available from http://www.medimmunol.com/content/5/1/4
GENE AND CELLULAR THERAPY
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med. 2010, 16:198-204. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Krämer A, Schwäble J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Göhring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Yang R, Reinecke P, Kühlcke K, Schlegelberger B, Thrasher AJ, Hoelzer D, Seger R, von Kalle C, Grez M.
A new PG13-based packaging cell line for stable production of clinical grade self inactivating -retroviral vectors using targeted integration. Gene Therapy 2010, 17:272-280. Loew R, Meyer Y, Kuehlcke K, Gama-Norton L, Wirth D, Hauser H, Stein S, Thornhill S, Thrasher AJ, Baum C , Schambach A.
Retroviral vector integration in post-transplant hematopoiesis in mice conditioned with either submyeloablative or ablative irradiation. Gene Therapy 2009, 16:1452-1464.Sadat MA, Dirscherl S, Sastry L, Dantzer J, Pech N, Griffin S, Hawkins T, Zhao Y, Barese CN, Cross S, Orazi A, An C, Goebel WS, Yoder MC, Li X, Grez M, Cornetta K, Mooney SD, Dinauer MC.
Transgene optimization significantly improves SIN vector titers, gp91(phox) expression and reconstitution of superoxide production in X-CGD cells. Gene Therapy 2009, 16:111-118.Moreno-Carranza B., Gentsch M., Stein S., Schambach A., Santilli G., Rudolf E., Ryser M.F., Haria S., Thrasher AJ., Baum C., Brenner S., Grez M.
Gene therapy of inherited immunodeficiencies. Expert Opin Biol Ther. 2008 apr:8(4):397-407. Santilli G, Thornhill SI, Kinnon C, Thrasher AJ
Gene therapy for primary immunodeficiencies. Immunol.Allergy Clin. North America. 2008, 28 (2): 457-471. Thrasher AJ
Transgene optimization significantly improves SIN vector titers, gp91phox expression and reconstitution of superoxide production in X-CGD cells. Gene Ther. 2009 Jan;16(1):111-8.Moreno-Carranza B, Gentsch M, Stein S, Schambach A, Santilli G, Rudof E, Ryser MF, Haria S, Thrasher Aj, Baum C, Brenner S, Grez M.
Lentiviral vectors containing an enhancer-less ubiquitously-acting chromatin opening element (UCOE) provide highly reproducible and stable transgene expression in haematopoietic cells. Blood.2007 Sep 1;110(5):1448-57.Zhang F, Thornhill SI, Howe SJ, Ulaganathan M, Scahmbach A, Sinclair J, Kinnon C, Gaspar HB, Antoniou M, Thrasher AJ.
Article available at
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2629730&tool+pmcentrez
Liposome-mediated cellular delivery of active gp91. PLoS ONE. 2007 Sep;12:2(9):e856. Marques B, Liguori L, Paclet MH, Villegas-Mendez A, Rothe R, Morel F, Lenormand JL.
Correction of X-linked Chronic Granulomatous Disease by gene therapy, augmented by insertional activation of MDS/EVI1, PRDM16 or SETBP1. Nature Medicine 12:401-409, 2006.
MG Ott, M Schmidt, K Schwarzwaelder, S Stein, U Siler, U Koehl, H Glimm, K Kühlcke, A Schilz, H Kunkel, S Naundorf, A Brinkmann, A Deichmann, M Fischer, C Ball, I Pilz, C Dunbar, Y Du, NA Jenkins, NG Copeland, U Lüthi, M Hassan, AJ Thrasher, D Hoelzer, C von Kalle, R Seger, M Grez.
Successful reconstitution of immune function in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther. 14(4):505-13, 2006.
HB Gaspar, E Bjorkegren, K Parsley, K Gilmour, D King, J Sinclair, S Adams, LD Fairbanks, J Gaspar, L Henderson, EG Davies, KC Veys, AJ Thrasher.
Risks of gene therapy should be weighed against lack of alternatives for many diseases
BMJ;330:79, Letter, 2005.
RE MacLaren, RR Ali, AJ Thrasher.
Available at http://www.bmj.com/cgi/content/full/330/7494/791-a
Failure of SCID-X1 gene therapy in older patients. Blood, 105:4255-4257, 2005.
AJ Thrasher, S Hacein-Bey-Abina, HB Gaspar, S Blanche, EG Davies, K Parsley, K Gilmour, D King, S Howe, J Sinclair, C Hue, F Carlier, C von Kalle, BG de Saint, F Le Deist, A Fischer, M Cavazzana-Calvo.
Gene therapy for lympho-hematopoietic disorders. Current Hematology Reports 4:305-309, 2005.
AJ Thrasher, and HB Gaspar.
Gene therapy in primary immunodeficiency. Expert Opin Biol Ther. 5:1175-82, 2005.
AJ Thrasher and HB Gaspar.
Successful gene therapy of SCID-X1 using a pseudotyped gammaretroviral vector. Lancet, 364(9452):2181-7, 2004.
Gaspar HB, Parsley K, Howe S, King D, Gilmour KC, Sinclair J, White H, Smith J, Barington T, Jacobsen M, Christensen HO, Brouns G, AlGhonaim A, Schmidt M, Von Kalle c, Ali, RR, Kinnon C, Thrasher AJ.
Enhancer-deleted retroviral vectors restore high levels of superoxide generation in a mouse model of CGD. J Gene Med, 6:6, 603-615, 2004.
Schwickerath O, Brouns, G,Thrasher, A, Kinnon C, Roes, J, Casimir, C.
Enhancer-Deleted Retroviral Vectors Can Restore High Levels of Superoxide Generation in a Mouse Model of CGD. J Gene Med. 6(6):603-15, 2004.
Schwickerath O, Brouns G, Thrasher, AJ, Kinnon C, Roes J, Casimir CM.
Differentiation-Dependent Up-Regulation of p47phox Gene Transcription is Associated with Changes in PU.1 Phosphorylation and Increased Binding Affinity. Biochem. Biophys. Res.Commun. 305, 193-202, 2003.
Marden CA, Cunninghame Graham, DS, Casimir CM.
A Functional ISRE is Required for Myeloid Transcription of the p47phox gene. Biochim. et Biophys. Acta 1630 117-122. 2003.
Marden, CM, Cunninghame Graham D, Thrasher AJ, Casimir, C.M.
High-level transduction and gene expression in haematopoietic repopulating cells using a human immunodeficiency virus type-1 based lentiviral vector containing an internal spleen focus forming virus promoter. Human Gene Therapy 13:803-813, 2003.
Demaison C, Parsley K, Brouns G, Scherr M, Battmer K, Kinnon C, Grez M,Thrasher AJ.
Mobilisation and transduction of CD34+ peripheral blood stem cells in patients with X-linked chronic granulomatous disease. J Hematotherapy & Stem Cell Research: 11: 683-694, 2002.
Ott MG, H Merget-Millitzer, OG Ottmann, H Martin, N Brüggenolte, H Bialek, R Seger, JP Hossle, D.Hoelzer, M Grez.
Gene Therapy of Hematopoietic Stem Cells: Strategies for Improvement. News Physiol Sci 17: 87-92, 2002.
Hossle JP, Seger RA, Steinhoff D.
A defined window for efficient gene marking of severe combined immunodeficient repopulating cells using a gibbon ape leukaemia virus-pseudotyped retroviral vector. Human Gene Therapy 11:91-100, 2000.
Demaison C, Brouns G, Blundell MP, Goldman JP, Levinsky RJ, Grez M, Kinnon C, Thrasher AJ.
Quality of repopulation in NOD/SCID mice engrafted with expanded cord blood CD34+ cells. Blood 94: 3269-3270, 1999.
Blundell M, Lazzari L, Demaison C, Brouns G, Goldman J, Gaspar HB, Kinnon C, Sirchia G, and Thrasher AJ.
Functional Analysis of the p47phox gene promoter. PhD Thesis, University of London (1999).
Marden CM.
ORAL PRESENTATIONS AT INTERNATIONAL CONFERENCES
International Symposium on Immunotherapy and Immunodeficiency. German Cancer Research Center Heidelberg, 19-20 November 2009. M. Grez. Gene therapy of chronic granulomatous disease: lessons, chances and challenges.
5th Stem Cell Clonality & Genotoxicity Retreat, Hannover, 20-21 November 2009. M. Grez. Vector silencing,insertional activation of EVI1 and the induction of genomic instability in a gene therapy trial for Chronic Granulomatous Disease
European Society of Gene and Cell Therapy, Hannover, 22-25 November 2009. M. Grez. Development of lentiviral vectors for the gene therapy of X-CGD.
Hospital Infantil Vall d´Hebron , Barcelona, 8-9. December 2009. M. Grez. Gene Therapy of Chronic Granulomatous Disease: Lessons, Chances and Challenges.
Transatlantic Gene Therapy Retreat, San Diego, May 2009. A. Thrasher.
Vector Developments for PID.
International Union of Immunological Societies, Dublin, June 2009. A. Thrasher.
Gene Therapy.
Vector Development and Gene Therapy Course, German Society for Gene Therapy, Cologne, September 2009. A. Thrasher. Gene Therapy of Immune Deficiencies.
SETGyC (Spanish Gene Therapy Association), Granada, Sept - Oct 2009.
Educational Session. A. Thrasher. Gene Therapy for Immunodeficiencies.
Plenary Lecture: Regenerative medicine for primary immunodeficiencies.
5th Stem cell clonality and genotoxicity retreat, ESGCT Hannover November 2009. A. Thrasher. Gene therapy of severe combined immunodeficiency.
Israeli Society of Gene and Cell Therapy: Lentiviruses Gene Therapy Workshop, Hadassah Hospital, Jerusalem (Co-organiser) 31 Jan-3 Feb 2010
A. Thrasher. Development of lentiviral vectors for immunodeficiencies.
American Association of Allergy, Asthma and Immunology, New Orleans, 27 Feb-2 March 2010. A. Thrasher. Update on Gene Therapies for the Treatment of PIDs.
Human Haemopoietic Stem Cell and Gene Transfer CGD Workshop, Seoul, Korea, February 2009 A. Thrasher UK Experiences of Gene Therapy for CGD
CONSERT meeting, Leukerbad, January 2009 Almarza E., Santilli G., Blundell M., Kinnon C., Grez M., Bueren J.A., Thrasher J. Optimization of gene therapy for X-CGD by the use of lentiviral vectors
16th European Society of Gene and Cellular Therapy (ESGCT), Bruges November 2008 R. Seger, U. Siler, J. Reichenbach, G. Notheis, U. Wintergerst, B. Belohradsky, S. Stein, MG. Ott, K. Kuhicke, M. Schmidt, C.v. Kalle, M. Grez Immediate clinical benefit, but variable long-term correction of X-linked CGD by gene therapy in children
15th Meeting of the German Society of Gene Therapy Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Schmidt M, Martin H, Koehl U, Preiss C, Rudolf E, Kunkel H, Kramer R, Schwarzwaelder K, Hofmann WK, Kuhicke K, Schlegelberger B, Thrasher A, Seger R, von Kalle C, Holzer D, Grez M. Gene therapy for chronic granulomatous disease: Current status of the German clinical trial.
International Society for Cellular Therapy, Antwerp, September 2008 A. Thrasher. UK Experiences of Gene Therapy for CGD.
11th American Society for Gene Therapy (ASGT) Boston, USA, June 1, 2008. M. Grez: Gene Therapy of Chronic Granulomatous Disease: Ups and Downs after 4 years follow-up.
American Society of Gene Therapy, 9th Annual Meeting, Baltimore, June 2006
M. Grez. ‘Clinical results from a Phase I gene therapy trial for CGD’.
AJ. Thrasher. ‘Clinical Therapy for Immunodeficiency’.
- International Society for Cellular Therapy, Berlin, May 2006
M Grez. ‘Gene Therapy of CGD’. - Public Education Day, British Society for Gene Therapy, 3rd Annual Conference, London, March 2006
AJ Thrasher. ‘Gene therapy for immune deficiencies’. - British Society for Gene Therapy, London, March 2006
M Grez. ‘Correction of X-linked CGD by Gene Therapy’. - European Society for Clinical Investigation, Prague, February 2006
M Grez. ‘Improving gene therapy for CGD: vector development, testing and clinical application’. - EU CONSERT Meeting, Leukerbad, January 2006
M Grez. ‘Retroviral gene therapy for CGD’. - EUROCONFERENCE Cellular and Gene Therapy, Paris, December 2005
M Grez. ‘Gene Therapy of CGD’. - European Society for Gene Therapy, XIII Annual Conference, Prague, November 2005
M Grez. ‘Gene Therapy of CGD’.
AJ Thrasher. ‘Gene Therapy of Immunodeficiencies’ and ‘Safety and Regulatory Issues’ - Cell-and Gene-Therapy Symposium, Budapest, September 2005
M Grez. ‘Gene Therapy of CGD’. - Japanese Society of Gene Therapy, Tokyo, July 2005
M. Grez. ‘Reconstitution of phagocytic killing in X-CGD patients after gene therapy’. - German Society of Gene Therapy, Würzburg, July 2005
M Grez. ‘Update on the X-CGD gene therapy phase I clinical study’. - American Society of Gene Therapy, 8th Annual Meeting, St. Louis, USA, June 2005
M Grez. ‘Correction of CGD by gene therapy’.
AJ Thrasher. ‘Clinical trials for immunodeficiency’. - State of the Art Conference on Gene Therapy, Royal Society of Medicine, London, April 2005
AJ Thrasher. ‘Gene therapy for immunodeficiency’. - Life Science Congress, Austrian Societies for Biochemistry, Gene Technology, Bio Technology and Gene Therapy, Vienna, Austria, September 2005
AJ Thrasher. ‘Successful Gene Therapy for Inherited Immunodeficiency’. - XIth Meeting of the European Society for Immunodeficiencies, Versailles, France, 2004
M. Grez. ‘Gene Therapy for X-linked Chronic Granulomatous Disease’.
A. Thrasher. ‘Update on Gene Therapy Trials’ - The 12th Annual Congress of the European Society of Gene Therapy, Tampere, Finland, 2004
M. Grez ‘Gene Therapy for X-linked Chronic Granulomatous Disease’. - American Society of Hematology Annual Meeting, San Diego, CA USA, 2004
M. Grez. ‘Gene Therapy for X-linked Chronic Granulomatous Disease’. - Danish Society for Clinical Immunology, Copenhagen, June 2004
HB Gaspar. ‘Gene Therapy for Primary Immunodeficiencies’ - National Institute of Health, Bethesda, February 2004
A. Thrasher. ‘Clinical Gene Therapy for SCID-XI’ - American Society of Blood and Marrow Transplantation tandem meeting, Orlando, February 2004
A. Thrasher. ‘Gene Therapy for X-SCID – the UK Experience’ - British Society for Gene Therapy, Keble College, Oxford, March 2004
A. Thrasher. ‘SCID Clinical Trials and Beyond – lessons to be learned’ - University of Glasgow, May 2004
A. Thrasher. ‘Successful Gene Therapy for SCID’ - Infection and Immunity in Children, Keble College Oxford, June 2004
A. Thrasher. ‘New Insights into Primary Immunodeficiency’ - British Society of Immunology, Harrogate, December 2004
A. Thrasher. ‘Gene Therapy for CGD’ - 5th Annual Meeting of the American Society of Gene Therapy, Boston, June 2002
M. Grez. 'Selective expansion of retrovirally transduced haematopoietic cells', - 6th Annual Meeting of the European Haematology Association, Frankfurt, June 2001
M. Grez. ‘Ex vivo expansion of haematopoietic stem cells' - 9th Meeting of the European Society of Gene Therapy, Antalya, November 2001
M. Grez. 'An ex vivo expansion system for retrovirally transduced haematopoietic
stem cells'
POSTER PRESENTATIONS AT CONFERENCES
European Society of Gene and Cell Therapy, Hannover, 22-25 November 2009. M. Grez.
Poster presentations: Vector silencing in a gene therapy trial for X-CGD and strategies to improve long term transgene expression; Gene therapy for chronic Granulomatous Disease; Ups and Downs; In vivo efficacy testing of a SIN gamma retroviral vector for the gene therapy of X-CGD; Genotoxicity analysis of a new SIN gamma retroviral vector for the gene therapy of X-CGD; Development of safety improved lentiviral vectors containing ubiquitous chromatin opening elements.
13th Annual Meeting of the American Society of Gene and Cell Therapy
San Diego, CA 27-30 May 2009.
Poster presentation: SIN gammaretroviral vectors for the gene therapy of X-CGD.
British Society of Gene Therapy Annual Meeting, Royal Holloway, University of London, 29th-31st March 2010.
Poster presentation: Targeted lentiviral gene therapy to rescue the X-CGD phenotype. Giorgia Santilli, Christian Brendel, Elena Almarza, Chiara Beilin, Mike Blundell, Sneha Hari, Kate Parsley, Christine Kinnon, Juan A Bueren, Manuel Grez and Adrian J Thrasher.
11th ASGT Boston, USA, June 1, 2008. Lakshmi Sastry, Mohammed A. Sadat, Sara Dirscheri, Jessica Dantzer, Nancy Pech, Samantha Griffin, Scott Cross, Manuel Grez, Xiaoman Li, Kenneth Cornetta, Sean Mooney and Mary C. Dinauer: 'Gene transfer in murine X-linked chronic granulomatous disease using an SFFV-based gamma-retroviral vector: vector integration sites are influenced by pre-transplant conditioning regimen'.
15th Meeting of the German Society of Gene Therapy Stefan Stein, Eva Rudolf, Hana Kunkel, Ute Modlich, Bibiana Moreno-Carranza, Linping Chen-Wichmann, Carolin Preiss, Sylvia Kohler, Axel Schambach, Christopher Baum, and Manuel Grez: 'SIN gammaretroviral vectors for the gene therapy of X-CGD.'
16th The European Society of Gene and Cell Therapy Meeting, Burges November 2008
- Stefan Stein, MG Ott, M.Grez: 'Gene Therapy for X-CGD.'
- Christian Brendel, Stefan Stein, Michael Antoniou and Manuel Grez: 'Lentiviral vectors for gene therapy of X-CGD: Specific and high expression of gp91phox restricted to granulocytes.'
British Society of Gene Therapy, 5th Annual Conference, April 2008 G. Santilli, M. Blundell, S. Haria, C. Kinnon, M. Antoniou, M. Grez and A. Thrasher. 'Evaluation of self-inactivating lentiviral vectors containing myeloid specific promoters in combination with the ubiquitously acting chromatin opening element (UCOE) for gene therapy of X-CGD.'
British Society for Gene Therapy, 4th Annual Conference Warwick University, 2007. 'Evaluation of self inactivating lentiviral vectors containing myeloid specific promoters in combination with the ubiquitously acting chromatin opening element (UCOE) for gene therapy of X-CGD'. Giorgia Santilli, Sneha Haria, Chiara Beilin, Christine Kinnon, Michael Anioniou, Manuel Grez, Adrian J Thrasher.
Annual Meeting of the American Society of Gene Therapy, Seattle, June 2007. 'In vivo expansion of integration clones caused by retroviral activation of MDS1-EV11, PRDM16 or SETBP1 in a successful clinical Chronic Granulomatous Disease (CGD) gene therapy trial'. Stefan Stein and Manuel Grez.
INFLAMMATION IN CGD
NADPH oxidase limits innate immune responses in the lungs in mice. PLoS One. 2010 Mar 16;5(3):e9631. Segal BH, Han W, Bushey JJ, Joo M, Bhatti Z, Feminella J, Dennis CG, Vethanayagam RR, Yull FE, Capitano M, Wallace PK, Minderman H, Christman JW, Sporn MB, Chan J, Vinh DC, Holland SM, Romani LR, Gaffen SL, Freeman ML, Blackwell TS.
This article is available from www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009631
Exogenous pentraxin 3 restores antifungal resistance and restrains inflammation in murine chronic granulomatous disease. J Immunol. 2009 Oct 1;183(7):4609-18.
D'Angelo C, De Luca A, Zelante T, Bonifazi P, Moretti S, Giovannini G, Iannitti RG, Zagarella S, Bozza S, Campo S, Salvatori G, Romani L.
Digestive Disease Week Meeting, San Diego, USA, May 2008 A. Smith and F. Rahman 'The prevalence of undiagnosed disorders of neutrophil function mimicking Crohn's disease.' Published in Gastroenterology 2008; 134 (Suppl 1): A14
Defective tryptophan catabolism underlies inflammation in mouse chronic granulomatous disease. Nature. 2008 Jan 10; 451(7175):211-5. Romani L, Fallarino F, De Luca A, Montagnoli C, D'Angelo C, Zelante T, Vacca C, Bistoni F, Fioretti MC, Groham U, Segal BH, Puccetti P.
NADPH oxidase is not required for spontaneous and Staphylococcus aureus-induced apoptosis of monocytes. Annals of Hematology 83(4):206-11, 2004.
Von Bernuth H, Kulka C, Roesler J, Gahr M, Rosen-Wolff A.
Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in CGD. Journal of Leukocyte Biology: 73, 591-599, 2003. Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ.
Association between p47phox pseudogenes and inflammatory bowel disease. Blood 101(8), 3337, 2003.
M. Harbord, A. Hankin, S. Bloom, H. Mitchison.
Ym1 is a neutrophil granule protein that crystallizes in p47phox-deficient mice. J Biol Chem. 277(7), 5468-75, 2002.
Harbord M, Novelli M, Canas B, Power D, Davis C, Godovac-Zimmermann J, Roes J, Segal AW.
Cantharidin blisters: a technique for investigating leukocyte trafficking and cytokine production at sites of inflammation in humans. J Immunol Methods. 257(1-2), 213-20, 2001.
Day RM, Harbord M, Forbes A, Segal AW.
POSTER PRESENTATIONS
British Society of Gastroenterology Meeting, Birmingham, March 2008 A. Smith and F. Rahman 'The prevalence of undiagnosed disorders of neutrophil function mimicking Crohn's disease.'
European Crohn's and Colitis Organisation Meeting, Lyon, France, February 2008 A. Smith and F. Rahman 'The prevalence of undiagnosed disorders of neutrophil function mimicking Crohn's disease'.
CARRIER ISSUES IN CGD
'Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology'. Clin Exp Immunol. 2007 Apr; 148(1):79-84 Cale CM, Morton L, Goldblatt D.
FIGHTING FUNGAL AND BACTERIAL INFECTIONS
Carbohydrate oxidation acidifies endosomes, regulating antigen presentation and TLR9 signaling. J Immunol. 2010 Apr 1;184(7):3789-800. Lewis CJ, Cobb, B.A. 2010.
Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen. Clin Infect Dis. 2009 Dec 1;49(11):1703-10. Reichenbach J, Lopatin U, Mahlaoui N, Beovic B, Siler U, Zbinden R, Seger RA, Galmiche L, Brousse N, Kayal S, Güngör T, Blanche S, Holland SM.
Restoration of NET formation by gene therapy in CGD controls aspergillosis.
Blood. 2009 Sep 24;114(13):2619-22. Bianchi M, Hakkim A, Brinkmann V, Siler U, Seger RA, Zychlinsky A, Reichenbach J.
Impaired interferon-gamma responses, increased interleukin-17 expression, and a tumor necrosis factor-alpha transcriptional program in invasive aspergillosis. J Infect Dis. 2009 Oct 15;200(8):1341-51. Armstrong-James DP, Turnbull SA, Teo I, Stark J, Rogers NJ, Rogers TR, Bignell E, Haynes K.
Virulence comparisons of Aspergillus nidulans mutants are confounded by the inflammatory response of p47phox-/- mice. Infection and Immunity 73(8): 5204-7, 2005.
Bignell E, Negrete-Urtasun S, Calcagno AM, Arst HN, Rogers T, Haynes K.
The Aspergillus pH-responsive transcription factor PacC regulates virulence. Mol Microbiol. 55(4):1072-84, 2005.
Bignell E, Negrete-Urtasun S, Calcagno AM, Haynes K, Arst HN Jr, Rogers T.
ORAL PRESENTATIONS
- 3rd Advance against Aspergillosis, Florida, USA, January 2008 B Segal 'Invasive Aspergillosis in Chronic Granulomatous Disease'.
- Blood and Fungi Meeting, November 2005.
E Bignell. Virulence comparisons of Aspergillus nidulans mutants are confounded by the inflammatory response of p47phox-/- mice.
POSTER PRESENTATIONS
- American Society for Microbiology 108th General Meeting. 'Deletion of the Aspergillus fumigatus cAMP-dependent protein kinase A regulatory subunit, pkaR, decreases virulence in a murine model of Chronic Granulomatous Disorder'. Fortwendel, J.R., Gibbons, R.S., Allen, H.L., Deepe, Jr., G.S., Newman, S.L. Askew, D.S., and Rhodes, J.C.
- 2nd Advances against Aspergillosis, Athens, Greece, February 2006.
Suzy Turnbull. Transcript profiling of the murine immune response to Aspergillus Fumigatus.
UNDERSTANDING THE ENZYME AFFECTED IN CGD
Hematologically important mutations: The autosomal recessive forms of CGD (second update). Blood Cells, Molecules and Diseases, 2010 Volume 44, 291-299.
Dirk Roos, Douglas B Kuhns, Anna Maddalana, Jacinta Bustamante, Caroline Kannengeisser, Martin de Boer, Karin van Leeuwen, M.Yavuz Koker, Baruch Wolach, Joachim Roesler, Harry L. Malech, Steven M. Holland, John I. Gallin, Marie-Jose Stasia.
Identification of a conserved Rac-binding site on NAPDPH oxidases supports a direct GTPase regulatory mechanism. J Biol Chem. 2008 May 9;283 (19): 12736-46. Kao YY, Giannis D, Bohl B, Taylor RM, Bokoch GM.
New insights into the membrane topology of the phagocyte NADPH oxidase: characterisation of an anti-gp91-phopx conformational monoclonal antibody. Campion Y., Paclet M.H., Jesaitis A.J., Marques B., Grichine A., Berthier S., Lenormand J.L., Lardy B., Stasia M.J. and Morel F. Biochimie (2007), 89, 1145-1158.
Bases moleculaires de la granulomatouse septique 'le complexe de la NADPH oxydase. Bulletin de l'Academie Nationale de Medecine (2007), 191, 377-392. Morel F.
Regulation of NADPH oxidase activity: identification of two cytochrome b558 activation states. FASEB J. (2007), 21, 1244-1255. Paclet M.H., Berthier S., Kuhn L., Garin J., and Morel F.
Single-cell optical imaging of the phagocyte NADPH oxidase. Antioxidants and Redox Signaling, Antioxid Redox Signal. 1509-22, 2006.
H-J van Manen, R van Bruggen, D Roos, C Otto.
Raman microscopy of phagocytosis: shedding light on macrophage foam cell formation. Proc. SPIE Vol. 6093, 60930I-1, 2006.
H-J van Manen, AA van Apeldoorn, D Roos, C Otto.
Single-cell Raman and fluorescence microscopy reveal the association of lipid bodies with phagosomes in leukocytes. Proc Natl Acad Sci USA 102(29):10159-64, 2005.
Van Manen HJ, Kraan YM, Roos D, Otto C.
Continuous translocation of Rac2 and the NADPH oxidase component p67(phox) during phagocytosis. J Biol Chem. 279(10):9097-102, 2004.
Van Bruggen R, Anthony E, Fernandez-Borja M, Roos D.
Intracellular chemical imaging of heme-containing enzymes involved in innate immunity using resonance Raman microscopy. J.Phys. Chem B 108, 18762-18771, 2004.
van Manen HJ, Kraan YM, Roos D, Otto C.
Resonance Raman imaging of the NADPH oxidase subunit cytochrome b558 in single neutrophilic granulocytes. J.Am. Chem. Soc. 125: 12112-12113, 2003.
Van Manen H-J, Uzunbajakava Nvan Bruggen R, Roos D, Otto C.
Non-reasonant confocal Raman imaging of DNA and protein distribution in apoptotic cells. Biophy. J. 84: 3968-3981, 2003.
Uzunbajakava N, Lenferink A, Kraan Y, Volokhina E, Vrensen G, Greve J, Otto C.
ORAL PRESENTATIONS
- The Institute for Advanced Studies, The Hebrew University of Jerusalem, Jerusalem, Israel, October 6-11, 2007. Gary M. Bokoch 'Signal Transduction in Host-Bacterial Interactions'
- Gordon Research Conference on Phagocytes, Rhode Island, USA., June, 2007 G. Bokoch 'Regulation of NADPH oxidases by Rac GTpases'.
- Focus on Microscopy 2004. Philadelphia. USA, 2004
D Roos and C Otto. Confocal Raman imaging of cytochrome b558 in single cells. - European Conference of the Spectroscopy of Biomolecules (ECSBM) Aschaffenburg Germany, September 2005.
C Otto. Single cell Raman and fluorescence microscopy of leukocytes. - Spec2006: Shedding light on Disease; Optical Diagnosis for the New Millenium, Heidelberg, Germany, May 2006.
C Otto. Lipid Droplets: a new player in the molecular mechanism of the immune response in neutrophilic granulocytes. - Photonics West – Biomedical Optics, January 2006, San Jose, CA, USA.
H-J van Manen, D Roos, V Subramaniam, C Otto. Raman microscopy of phagocytosis: shedding light on innate immunity. - Annual Dutch Meeting on Cellular and Molecular Biophysics, October 2006, Lunteren, The Netherlands.
H-J van Manen, D Roos, V Subramaniam, C Otto. Raman imaging reveals a role for lipid droplets in the innate immune response.
POSTER PRESENTATIONS AT CONFERENCES
The Scripps Research Institute, September 2007. Postdoctoral Symposium: identification of a conserved Rac-binding site on NADPH oxidases supports a direct GTPase regulatory mechanism. Yu-Ya Kao, G.M. Bokoch.
CGD REGISTRIES
Chronic granulomatous disease: the European experience. PLoS ONE. 2009;4(4):e5234. van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Espanol T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW.
Article available at
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0005234
Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008 May: 152(2):211-8. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A., Goldblatt D, Parker L, Cant AJ.
Article available at
http://www3.interscience.wiley.com/journal/119389133/abstract?CRETRY=1&SRETRY=0
ORAL PRESENTATIONS
- ESID Conference, Versailles, France, October 2004.
D Roos and T Kuijpers. European CGD Registry. - CGD RT Consultant's Conference, London, November 2002.
L Jones. CGD in the UK and Ireland. - British Thoracic Society Meeting, London, December 2002
L Jones. Respiratory Disease in CGD. - Royal College of Paediatrics and Child Health, York, April 2003
L Jones. CGD in the UK and Ireland: Epidemiological and Clinical Features.
POSTER PRESENTATIONS
- 13th International Congress of Immunology, Rio de Janeiro, Brazil, August 2007. 'Chronic Granulomatous Disease (CGD): a European database'. J.M. van den Berg, E. van Koppen, B.H. Belohradsky, J, Roesler, R. Seger, E. Bernatowska, A. Ahlin, N.H. Valerius, L. Corbeel, A. Fischer, M.J. Stasia, T. Espanol, B. Wolach, R.S. Weening, D. Roos, T.W. Kuijpers
- European Society of Immunodeficiencies, Weimar, October 2002.
CGD in the UK and Ireland: A report from the Registry. L Jones. - European Society of Paediatric Gastroenterology, Hepatology and Nutrition, Prague, June 2003.
Liver Abscesses in CGD. PJ McGrogan.
IMPORTANT NOTE :
The information contained on this website is intended only as a guideline, not as a substitute for medical advice. Always consult your doctor if you or your child has any CGD symptoms or concerns.
© 2001-2007 The Chronic Granulomatous Disorder (CGD) Research Trust
Registered Charity No. 1003425 email:cgd@cgdrt.co.uk
The CGD Research Trust is a member of the Association of Medical Research Charities (AMRC), the Genetic Interest Group (GiG) and an associate member of the International Patient Organisation of Primary Immunodeficiencies (IPOPI)
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