Publications by authors named "Siobhan Burns"

81Publications

LONG-TERM OUTCOMES FOR ADULTS WITH CHRONIC GRANULOMATOUS DISEASE IN THE UNITED KINGDOM.

J Allergy Clin Immunol 2020 Sep 21. Epub 2020 Sep 21.

Department of Immunology, Royal Free London NHS Foundation Trust, London, UK; University College London Institute of Immunity and Transplantation, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.08.034DOI Listing
September 2020

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.

Br J Haematol 2020 Sep 23. Epub 2020 Sep 23.

Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1111/bjh.17081DOI Listing
September 2020

A Case of Burkholderia Prostatitis in a Patient with Chronic Granulomatous Disease.

J Clin Immunol 2020 Nov 16;40(8):1204-1206. Epub 2020 Sep 16.

Department of Immunology, Royal Free Hospital, Pond Street, Hampstead, London, UK.

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http://dx.doi.org/10.1007/s10875-020-00833-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7492686PMC
November 2020

Transverse myelitis in a patient with activated phosphoinositide 3-kinase δ syndrome type 1.

Clin Immunol 2020 Oct 4;219:108552. Epub 2020 Aug 4.

Institute of Immunity and Transplantation, University College London, UK; Department of Immunology, Royal Free London NHS Foundation Trust, UK.

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http://dx.doi.org/10.1016/j.clim.2020.108552DOI Listing
October 2020

Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis.

Blood 2020 Oct;136(17):1933-1945

Laboratory of Immunology and Cellular Therapy, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1182/blood.2020005486DOI Listing
October 2020

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

J Allergy Clin Immunol 2020 Oct 9;146(4):901-911. Epub 2020 Apr 9.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.051DOI Listing
October 2020

Anti-Müllerian hormone and Inhibin B after stem cell transplant in childhood: a comparison of myeloablative, reduced intensity and treosulfan-based chemotherapy regimens.

Bone Marrow Transplant 2020 Oct 30;55(10):1985-1995. Epub 2020 Mar 30.

Department of Molecular and Clinical Sciences, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.

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http://dx.doi.org/10.1038/s41409-020-0866-9DOI Listing
October 2020

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency.

J Clin Immunol 2020 02 20;40(2):277-288. Epub 2019 Dec 20.

NIH Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St. James's University Hospital, Beckett Street, Leeds, UK.

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http://dx.doi.org/10.1007/s10875-019-00735-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082411PMC
February 2020

A comprehensive characterization of chronic norovirus infection in immunodeficient hosts.

J Allergy Clin Immunol 2019 11 13;144(5):1450-1453. Epub 2019 Aug 13.

Institute of Immunity and Transplantation, University College London, Royal Free Campus, London, United Kingdom; Department of Clinical Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749193103
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http://dx.doi.org/10.1016/j.jaci.2019.07.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6843911PMC
November 2019

FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.

Br J Haematol 2019 09 6;186(6):e163-e165. Epub 2019 Jun 6.

Centre for Haematology, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1111/bjh.15979DOI Listing
September 2019

Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom.

J Clin Immunol 2019 02 13;39(2):195-199. Epub 2019 Mar 13.

Great North Children's Hospital, Clinical Resource Building, Floor 4, Block 2, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK.

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http://dx.doi.org/10.1007/s10875-019-00607-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445821PMC
February 2019

How I manage patients with Wiskott Aldrich syndrome.

Br J Haematol 2019 05 12;185(4):647-655. Epub 2019 Mar 12.

Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/bjh.15831DOI Listing
May 2019

B cell-intrinsic requirement for STK4 in humoral immunity in mice and human subjects.

J Allergy Clin Immunol 2019 06 20;143(6):2302-2305. Epub 2019 Feb 20.

Immunology Division, Garvan Institute of Medical Research, Sydney, Australia; St Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.010DOI Listing
June 2019

Bleeding and splenectomy in Wiskott-Aldrich syndrome: A single-centre experience.

J Allergy Clin Immunol Pract 2019 03 23;7(3):1042-1044.e1. Epub 2018 Jul 23.

Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; University College London, Institute of Immunity and Transplantation, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaip.2018.07.009DOI Listing
March 2019

Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype.

J Allergy Clin Immunol 2019 02 18;143(2):726-735. Epub 2018 Jun 18.

Pediatric Department A and the Immunology Service, "Edmond and Lily Safra" Children's Hospital, Jeffrey Modell Foundation Center, Sheba Medical Center, Tel Hashomer, Ramat-Gan and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295349PMC
February 2019

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Front Immunol 2018 16;9:543. Epub 2018 Mar 16.

Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863269PMC
May 2019

Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity.

Clin Immunol 2018 03 3;188:94-102. Epub 2018 Jan 3.

Seccion de Infectología e Inmunopatología, Unidad de Pediatria, Hospital Virgen del Rocío, Sevilla, Instituto de Biomedicina de Sevilla (IBiS), Spain.

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http://dx.doi.org/10.1016/j.clim.2018.01.001DOI Listing
March 2018

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 10;8:1244. Epub 2017 Oct 10.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01
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http://dx.doi.org/10.3389/fimmu.2017.01244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641412PMC
October 2017

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56 NKG2A Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Front Immunol 2017 17;8:798. Epub 2017 Jul 17.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.00
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http://dx.doi.org/10.3389/fimmu.2017.00798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511964PMC
July 2017

Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

J Allergy Clin Immunol Pract 2018 Jan - Feb;6(1):159-168.e3. Epub 2017 Jul 19.

Department of Clinical Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; Institute of Immunity and Transplantation, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2017.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185402PMC
October 2019

Absence of γ-Chain in Keratinocytes Alters Chemokine Secretion, Resulting in Reduced Immune Cell Recruitment.

J Invest Dermatol 2017 10 17;137(10):2120-2130. Epub 2017 Jun 17.

Institute of Immunity and Transplantation, University College London, London, UK; Department of Immunology, Royal Free Hospital Foundation Trust, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173164
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http://dx.doi.org/10.1016/j.jid.2017.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896775PMC
October 2017

Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom.

J Allergy Clin Immunol 2017 08 23;140(2):628-630.e6. Epub 2017 Mar 23.

Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom; Department of Paediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2017.02.029DOI Listing
August 2017

Draft Genome Sequence of a Novel Marinobacter sp. Strain from Honolulu Harbor, Hawai'i.

Genome Announc 2016 Dec 8;4(6). Epub 2016 Dec 8.

Advanced Studies in Genomics, Proteomics and Bioinformatics, University of Hawai'i at Mānoa, Honolulu, Hawai'i, USA

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http://dx.doi.org/10.1128/genomeA.01354-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5146442PMC
December 2016

Primary immunodeficiencies due to abnormalities of the actin cytoskeleton.

Curr Opin Hematol 2017 01;24(1):16-22

aUniversity College London Institute of Immunity and Transplantation bDepartment of Immunology, Royal Free London NHS Foundation Trust cUniversity College London Institute of Child Health dGreat Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1097/MOH.0000000000000296DOI Listing
January 2017

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

J Allergy Clin Immunol 2017 02 16;139(2):597-606.e4. Epub 2016 Jul 16.

Department of Paediatric Immunology, Newcastle upon Tyne hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2016.06.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292996PMC
February 2017

Lentiviral Vector-Mediated Correction of a Mouse Model of Leukocyte Adhesion Deficiency Type I.

Hum Gene Ther 2016 09 5;27(9):668-78. Epub 2016 May 5.

1 Division of Hematopoietic Innovative Therapies, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT) , and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain .

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035374PMC
http://dx.doi.org/10.1089/hum.2016.016DOI Listing
September 2016

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

J Allergy Clin Immunol 2016 Jan;137(1):223-230

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; UCL Centre for Immunodeficiency, Royal Free Hospital Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.09.025DOI Listing
January 2016

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.

J Allergy Clin Immunol 2016 Mar 31;137(3):940-2.e4. Epub 2015 Oct 31.

Molecular and Cellular Immunology, Institute of Child Health, University College London, London, United Kingdom; Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2015.08.049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774944PMC
March 2016

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

Blood 2015 Sep 29;126(13):1527-35. Epub 2015 Jul 29.

Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; and University College London Institute of Immunity and Transplantation, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2014-12-611012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671330PMC
September 2015

A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.

Clin Immunol 2015 Jul 6;159(1):58-62. Epub 2015 May 6.

Erciyes University School of Medicine, Department of Pediatric Hematology and Oncology, Kayseri, Turkey.

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http://dx.doi.org/10.1016/j.clim.2015.04.015DOI Listing
July 2015

Modelling of human Wiskott-Aldrich syndrome protein mutants in zebrafish larvae using in vivo live imaging.

J Cell Sci 2013 Sep 18;126(Pt 18):4077-84. Epub 2013 Jul 18.

School of Biochemistry, Faculty of Medical and Veterinary Sciences, University of Bristol, University Walk, Bristol, BS8 1TD, UK.

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http://dx.doi.org/10.1242/jcs.128728DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772384PMC
September 2013

Lentivectors are efficient tools to manipulate the dendritic cell cytoskeleton.

Cytoskeleton (Hoboken) 2011 Aug 29;68(8):434-45. Epub 2011 Jul 29.

Molecular Immunology Unit, Wolfson Centre for Gene Therapy of Childhood Disease, UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/cm.20521DOI Listing
August 2011

Cytoskeletal remodeling mediated by WASp in dendritic cells is necessary for normal immune synapse formation and T-cell priming.

Blood 2011 Sep 20;118(9):2492-501. Epub 2011 Jun 20.

Molecular Immunology Unit, Centre for Immunodeficiency, University College London (UCL) Institute of Child Health, London, UK.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2011-03-34
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http://dx.doi.org/10.1182/blood-2011-03-340265DOI Listing
September 2011

Bacterial pathogens in Hawaiian coastal streams--associations with fecal indicators, land cover, and water quality.

Water Res 2011 May 12;45(11):3279-90. Epub 2011 Apr 12.

Stanford University, Department of Civil & Environmental Engineering, 473 Via Ortega, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.watres.2011.03.033DOI Listing
May 2011

Recent advances in the understanding of genetic defects of neutrophil number and function.

Br J Haematol 2010 Nov 31;151(4):312-26. Epub 2010 Aug 31.

Molecular Immunology Unit, UCL Institute of Child Health, Great Ormond Street Hospital NHS Trust, London, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2010.08361.xDOI Listing
November 2010

A congenital activating mutant of WASp causes altered plasma membrane topography and adhesion under flow in lymphocytes.

Blood 2010 Jul 30;115(26):5355-65. Epub 2010 Mar 30.

Molecular Immunology Unit, Centre for Immunodeficiency, Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1182/blood-2009-08-236174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2951698PMC
July 2010

WASP: a key immunological multitasker.

Nat Rev Immunol 2010 Mar;10(3):182-92

Molecular Immunology Unit and Centre for Immunodeficiency, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/nri2724DOI Listing
March 2010

Phosphorylation of WASp is a key regulator of activity and stability in vivo.

Proc Natl Acad Sci U S A 2009 Sep 1;106(37):15738-43. Epub 2009 Sep 1.

Molecular Immunology Unit, Wolfson Centre for Gene Therapy of Childhood Disease and Centre for Immunodeficiency, UCL Institute of Child Health, London, WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1073/pnas.0904346106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736139PMC
September 2009

Activating mutations of N-WASP alter Shigella pathogenesis.

Biochem Biophys Res Commun 2009 Jul 18;384(3):284-9. Epub 2009 Apr 18.

Gastrointestinal Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.bbrc.2009.04.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2697925PMC
July 2009

Impaired T-cell priming in vivo resulting from dysfunction of WASp-deficient dendritic cells.

Blood 2007 Dec 2;110(13):4278-84. Epub 2007 Aug 2.

Institute of Child Health, University College London (UCL), Molecular Immunology Unit, London, UK.

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http://dx.doi.org/10.1182/blood-2007-06-096875DOI Listing
December 2007

The leukocyte podosome.

Eur J Cell Biol 2006 Apr 10;85(3-4):151-7. Epub 2005 Oct 10.

Cell Motility and Cytoskeleton Group, Randall Division of Cell and Molecular Biophysics, King's College London, Guy's Campus, London SE1 1UL, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S017193350500142
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http://dx.doi.org/10.1016/j.ejcb.2005.09.003DOI Listing
April 2006

A partial down-regulation of WASP is sufficient to inhibit podosome formation in dendritic cells.

Mol Ther 2006 Apr 15;13(4):729-37. Epub 2005 Dec 15.

Unité mixte INSERM-Université Paris XI, U362, Institut Gustave Roussy, Villejuif F-94805 and CNRS, UMR 8115, Généthon, 91002 Evry, France.

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http://dx.doi.org/10.1016/j.ymthe.2005.11.003DOI Listing
April 2006

Mechanisms of WASp-mediated hematologic and immunologic disease.

Blood 2004 Dec 12;104(12):3454-62. Epub 2004 Aug 12.

Molecular Immunology Unit, Institute of Child Health, University College London, 30 Guilford St, London, WC1N 1EH, United Kingdom.

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http://dx.doi.org/10.1182/blood-2004-04-1678DOI Listing
December 2004

Maturation of DC is associated with changes in motile characteristics and adherence.

Cell Motil Cytoskeleton 2004 Feb;57(2):118-32

Molecular Immunology Unit, Institute of Child Health, University College London, 30 Guilford Street, London, United Kingdom.

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http://dx.doi.org/10.1002/cm.10163DOI Listing
February 2004