Publications by authors named "Helen Su"

100Publications

Autoantibodies against type I IFNs in patients with life-threatening COVID-19.

Authors:
Paul Bastard Lindsey B Rosen Qian Zhang Eleftherios Michailidis Hans-Heinrich Hoffmann Yu Zhang Karim Dorgham Quentin Philippot Jérémie Rosain Vivien Béziat Jérémy Manry Elana Shaw Liis Haljasmägi Pärt Peterson Lazaro Lorenzo Lucy Bizien Sophie Trouillet-Assant Kerry Dobbs Adriana Almeida de Jesus Alexandre Belot Anne Kallaste Emilie Catherinot Yacine Tandjaoui-Lambiotte Jeremie Le Pen Gaspard Kerner Benedetta Bigio Yoann Seeleuthner Rui Yang Alexandre Bolze András N Spaan Ottavia M Delmonte Michael S Abers Alessandro Aiuti Giorgio Casari Vito Lampasona Lorenzo Piemonti Fabio Ciceri Kaya Bilguvar Richard P Lifton Marc Vasse David M Smadja Mélanie Migaud Jérome Hadjadj Benjamin Terrier Darragh Duffy Lluis Quintana-Murci Diederik van de Beek Lucie Roussel Donald C Vinh Stuart G Tangye Filomeen Haerynck David Dalmau Javier Martinez-Picado Petter Brodin Michel C Nussenzweig Stéphanie Boisson-Dupuis Carlos Rodríguez-Gallego Guillaume Vogt Trine H Mogensen Andrew J Oler Jingwen Gu Peter D Burbelo Jeffrey I Cohen Andrea Biondi Laura Rachele Bettini Mariella D'Angio Paolo Bonfanti Patrick Rossignol Julien Mayaux Frédéric Rieux-Laucat Eystein S Husebye Francesca Fusco Matilde Valeria Ursini Luisa Imberti Alessandra Sottini Simone Paghera Eugenia Quiros-Roldan Camillo Rossi Riccardo Castagnoli Daniela Montagna Amelia Licari Gian Luigi Marseglia Xavier Duval Jade Ghosn John S Tsang Raphaela Goldbach-Mansky Kai Kisand Michail S Lionakis Anne Puel Shen-Ying Zhang Steven M Holland Guy Gorochov Emmanuelle Jouanguy Charles M Rice Aurélie Cobat Luigi D Notarangelo Laurent Abel Helen C Su Jean-Laurent Casanova

Science 2020 10 24;370(6515). Epub 2020 Sep 24.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.

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http://dx.doi.org/10.1126/science.abd4585DOI Listing
October 2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Authors:
Qian Zhang Paul Bastard Zhiyong Liu Jérémie Le Pen Marcela Moncada-Velez Jie Chen Masato Ogishi Ira K D Sabli Stephanie Hodeib Cecilia Korol Jérémie Rosain Kaya Bilguvar Junqiang Ye Alexandre Bolze Benedetta Bigio Rui Yang Andrés Augusto Arias Qinhua Zhou Yu Zhang Fanny Onodi Sarantis Korniotis Léa Karpf Quentin Philippot Marwa Chbihi Lucie Bonnet-Madin Karim Dorgham Nikaïa Smith William M Schneider Brandon S Razooky Hans-Heinrich Hoffmann Eleftherios Michailidis Leen Moens Ji Eun Han Lazaro Lorenzo Lucy Bizien Philip Meade Anna-Lena Neehus Aileen Camille Ugurbil Aurélien Corneau Gaspard Kerner Peng Zhang Franck Rapaport Yoann Seeleuthner Jeremy Manry Cecile Masson Yohann Schmitt Agatha Schlüter Tom Le Voyer Taushif Khan Juan Li Jacques Fellay Lucie Roussel Mohammad Shahrooei Mohammed F Alosaimi Davood Mansouri Haya Al-Saud Fahd Al-Mulla Feras Almourfi Saleh Zaid Al-Muhsen Fahad Alsohime Saeed Al Turki Rana Hasanato Diederik van de Beek Andrea Biondi Laura Rachele Bettini Mariella D'Angio' Paolo Bonfanti Luisa Imberti Alessandra Sottini Simone Paghera Eugenia Quiros-Roldan Camillo Rossi Andrew J Oler Miranda F Tompkins Camille Alba Isabelle Vandernoot Jean-Christophe Goffard Guillaume Smits Isabelle Migeotte Filomeen Haerynck Pere Soler-Palacin Andrea Martin-Nalda Roger Colobran Pierre-Emmanuel Morange Sevgi Keles Fatma Çölkesen Tayfun Ozcelik Kadriye Kart Yasar Sevtap Senoglu Şemsi Nur Karabela Carlos Rodríguez-Gallego Giuseppe Novelli Sami Hraiech Yacine Tandjaoui-Lambiotte Xavier Duval Cédric Laouénan Andrew L Snow Clifton L Dalgard Joshua D Milner Donald C Vinh Trine H Mogensen Nico Marr András N Spaan Bertrand Boisson Stéphanie Boisson-Dupuis Jacinta Bustamante Anne Puel Michael J Ciancanelli Isabelle Meyts Tom Maniatis Vassili Soumelis Ali Amara Michel Nussenzweig Adolfo García-Sastre Florian Krammer Aurora Pujol Darragh Duffy Richard P Lifton Shen-Ying Zhang Guy Gorochov Vivien Béziat Emmanuelle Jouanguy Vanessa Sancho-Shimizu Charles M Rice Laurent Abel Luigi D Notarangelo Aurélie Cobat Helen C Su Jean-Laurent Casanova

Science 2020 10 24;370(6515). Epub 2020 Sep 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.

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http://dx.doi.org/10.1126/science.abd4570DOI Listing
October 2020

Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.

J Clin Invest 2020 Oct;130(10):5551-5561

Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disease (NIAID), NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1172/JCI135947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7524497PMC
October 2020

Human inborn errors of immunity: An expanding universe.

Sci Immunol 2020 07;5(49)

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1126/sciimmunol.abb1662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7647049PMC
July 2020

Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?

Nat Rev Immunol 2020 08;20(8):455-456

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41577-020-0373-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7302118PMC
August 2020

The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations.

J Clin Immunol 2020 05;40(4):551-553

Department of Pediatrics, Vagelos College of Physicians and Surgeons, New York-Presbyterian Morgan Stanley Children's Hospital, Columbia University, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s10875-020-00785-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335263PMC
May 2020

A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection.

Cell 2020 06 13;181(6):1194-1199. Epub 2020 May 13.

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.cell.2020.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218368PMC
June 2020

Genetic determinants of host immunity against human rhinovirus infections.

Hum Genet 2020 Jun 29;139(6-7):949-959. Epub 2020 Feb 29.

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, USA.

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http://dx.doi.org/10.1007/s00439-020-02137-3DOI Listing
June 2020

Human Plasma-like Medium Improves T Lymphocyte Activation.

iScience 2020 Jan 11;23(1):100759. Epub 2019 Dec 11.

Molecular Development of the Immune System Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA; Immunology Graduate Group, Biomedical Graduate Studies, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.100759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941860PMC
January 2020

New immunodeficiency syndromes that help us understand the IFN-mediated antiviral immune response.

Curr Opin Pediatr 2019 12;31(6):815-820

Human Immunological Diseases Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993897PMC
December 2019

Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.

J Clin Immunol 2019 08 2;39(6):592-595. Epub 2019 Jul 2.

Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s10875-019-00663-yDOI Listing
August 2019

Evaluation of Mannose Binding Lectin Gene Variants in Pediatric Influenza Virus-Related Critical Illness.

Front Immunol 2019 8;10:1005. Epub 2019 May 8.

Division of Critical Care Medicine, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Department of Anaesthesia, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.3389/fimmu.2019.01005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518443PMC
September 2020

It Only Takes a Minute: The Development and Implementation of a Patient Experience Survey in Radiation Therapy.

J Med Imaging Radiat Sci 2019 Mar 29;50(1):5-11. Epub 2018 Aug 29.

Department of Radiation Therapy, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada; Department of Radiation Oncology, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmir.2018.07.006DOI Listing
March 2019

Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome.

Immunol Rev 2019 01;287(1):9-19

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/imr.12723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350515PMC
January 2019

Expanded skin virome in DOCK8-deficient patients.

Nat Med 2018 12 5;24(12):1815-1821. Epub 2018 Nov 5.

Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41591-018-0211-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286253PMC
December 2018

Impaired Control of Epstein-Barr Virus Infection in B-Cell Expansion with NF-κB and T-Cell Anergy Disease.

Front Immunol 2018 8;9:198. Epub 2018 Feb 8.

Department of Pharmacology and Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2018.00198DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809398PMC
April 2019

RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias.

J Allergy Clin Immunol 2018 04 2;141(4):1507-1510.e8. Epub 2018 Jan 2.

Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md; Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173301
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http://dx.doi.org/10.1016/j.jaci.2017.11.036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889970PMC
April 2018

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

N Engl J Med 2017 07 28;377(1):52-61. Epub 2017 Jun 28.

From the Section of Molecular Development of the Immune System, Laboratory of Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.), National Institutes of Health, Bethesda, MD; the Department of Pediatrics, Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, İstanbul University Cerrahpaşa Faculty of Medicine (Ö.F.B., T.E.), Istanbul, and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University (F.O., Z.B., M.G.), and the Pediatric Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.), the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, University Medical Center (H.L.L.), Utrecht, the Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1615887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690356PMC
July 2017

Exploring the intersections of transnationalism, sexuality and HIV risk.

Cult Health Sex 2017 06;19(6):645-652

d School of Social Work , McMaster University , Hamilton , Canada.

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http://dx.doi.org/10.1080/13691058.2017.1300327DOI Listing
June 2017

Studying human immunodeficiencies in humans: advances in fundamental concepts and therapeutic interventions.

Authors:
Helen Su

F1000Res 2017 24;6:318. Epub 2017 Mar 24.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.12688/f1000research.10594.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5373415PMC
March 2017

Dedicator of cytokinesis 8-deficient CD4 T cells are biased to a T2 effector fate at the expense of T1 and T17 cells.

J Allergy Clin Immunol 2017 Mar 20;139(3):933-949. Epub 2016 Aug 20.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Darlinghurst, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.016DOI Listing
March 2017

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency.

Blood 2016 08 14;128(8):1037-42. Epub 2016 Jul 14.

Molecular Development of the Immune System Section, Laboratory of Immunology, Clinical Genomics Program.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2016-04-71
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http://dx.doi.org/10.1182/blood-2016-04-712612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000841PMC
August 2016

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies.

J Allergy Clin Immunol 2016 09 24;138(3):903-905. Epub 2016 Apr 24.

Laboratory of Clinical Infectious Diseases, Division of Intramural Research, National Institute of Allergy and Infectious Disease, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.02.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391257PMC
September 2016

Recent Advances in DOCK8 Immunodeficiency Syndrome.

J Clin Immunol 2016 07 20;36(5):441-9. Epub 2016 May 20.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10CRC, Room 5-3940, 10 Center Dr., MSC 1456, Bethesda, MD, 20892-1456, USA.

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http://dx.doi.org/10.1007/s10875-016-0296-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914394PMC
July 2016

Food allergies can persist after myeloablative hematopoietic stem cell transplantation in dedicator of cytokinesis 8-deficient patients.

J Allergy Clin Immunol 2016 06 28;137(6):1895-1898.e5. Epub 2016 Jan 28.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.11.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899149PMC
June 2016

Genomics is rapidly advancing precision medicine for immunological disorders.

Nat Immunol 2015 Oct;16(10):1001-4

National Institute of Allergy and Infectious Diseases Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA, and Molecular Development of the Immune System Section, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ni.3275DOI Listing
October 2015

AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Science 2015 Jul;349(6246):436-40

Division of Bone Marrow Transplantation and Immune Deficiency, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA. Division of Immunobiology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center/ University of Cincinnati, Cincinnati, OH, USA.

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http://dx.doi.org/10.1126/science.aaa1663DOI Listing
July 2015

Noninvasive molecular imaging of apoptosis in a mouse model of anthracycline-induced cardiotoxicity.

Circ Cardiovasc Imaging 2015 Feb;8(2):e001952

From Siemens Molecular Imaging, Siemens Medical Solutions USA, Inc., Culver City, CA (H.S., N.G., L.F.G., U.G., F.M., G.C., J.C.W., K.S., H.C.K.); and Cleveland Clinic, Cleveland, OH (B.T.).

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http://dx.doi.org/10.1161/CIRCIMAGING.114.001952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4384653PMC
February 2015

Matched related and unrelated donor hematopoietic stem cell transplantation for DOCK8 deficiency.

Biol Blood Marrow Transplant 2015 Jun 27;21(6):1037-45. Epub 2015 Jan 27.

Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.bbmt.2015.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426076PMC
June 2015

Dual proteolytic pathways govern glycolysis and immune competence.

Cell 2014 Dec;159(7):1578-90

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA; NIAID Clinical Genomics Program, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297473PMC
December 2014

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.

J Exp Med 2014 Dec 8;211(13):2537-47. Epub 2014 Dec 8.

Molecular Development of the Immune System Section, Laboratory of Immunology; NIAID Clinical Genomics Program; Human Immunological Diseases Unit, Laboratory of Host Defenses; and Intramural Clinical Management and Operations Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892 Molecular Development of the Immune System Section, Laboratory of Immunology; NIAID Clinical Genomics Program; Human Immunological Diseases Unit, Laboratory of Host Defenses; and Intramural Clinical Management and Operations Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892

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http://dx.doi.org/10.1084/jem.20141759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267241PMC
December 2014

DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.

J Exp Med 2014 Dec 24;211(13):2549-66. Epub 2014 Nov 24.

Laboratory of Host Defenses, Laboratory of Systems Biology, Laboratory of Immunology, and Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892

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http://dx.doi.org/10.1084/jem.20141307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267229PMC
December 2014

A genetically specified connectomics approach applied to long-range feeding regulatory circuits.

Nat Neurosci 2014 Dec 2;17(12):1830-9. Epub 2014 Nov 2.

Janelia Research Campus, Howard Hughes Medical Institute, Ashburn, Virginia, USA.

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http://dx.doi.org/10.1038/nn.3854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4292906PMC
December 2014

Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN).

Eur J Hum Genet 2015 Jun 10;23(6). Epub 2014 Sep 10.

Molecular Development of the Immune System Section, Clinical Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.179
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http://dx.doi.org/10.1038/ejhg.2014.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795072PMC
June 2015

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.

J Allergy Clin Immunol 2014 Jun 3;133(6):1667-75. Epub 2014 May 3.

Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, Md. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749140044
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http://dx.doi.org/10.1016/j.jaci.2014.03.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132167PMC
June 2014

XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.

Blood 2014 Apr 18;123(14):2148-52. Epub 2014 Feb 18.

Molecular Development of the Immune System Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;

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http://dx.doi.org/10.1182/blood-2013-11-538686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975255PMC
April 2014

DOCK8 is critical for the survival and function of NKT cells.

Blood 2013 Sep 8;122(12):2052-61. Epub 2013 Aug 8.

Medical Research Council Human Immunology Unit, Weatherall Institute for Molecular Medicine, Oxford University, John Radcliffe Hospital, Oxford, United Kingdom;

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http://dx.doi.org/10.1182/blood-2013-02-482331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778549PMC
September 2013

In vitro and in vivo evaluation of the caspase-3 substrate-based radiotracer [(18)F]-CP18 for PET imaging of apoptosis in tumors.

Mol Imaging Biol 2013 Dec;15(6):748-57

Molecular Imaging Biomarker Research, Siemens Medical Solutions USA, Inc., 6100 Bristol Parkway, Culver City, CA, 90230, USA.

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http://dx.doi.org/10.1007/s11307-013-0646-7DOI Listing
December 2013

Evaluation of [(18)F]-CP18 as a PET imaging tracer for apoptosis.

Mol Imaging Biol 2013 Dec;15(6):739-47

Molecular Imaging Biomarker Research, Siemens Medical Solutions USA, Inc, 6100 Bristol Parkway, Culver City, CA, 90230, USA.

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http://dx.doi.org/10.1007/s11307-013-0644-9DOI Listing
December 2013

Designs for massively parallel sequencing approaches to identify causal mutations in human immune disorders.

Authors:
Yu Zhang Helen C Su

Methods Mol Biol 2013 ;979:175-87

Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/978-1-62703-290-2_14DOI Listing
August 2013

From in situ to in vivo: an in situ click-chemistry-derived carbonic anhydrase II imaging agent for positron emission tomography.

ChemMedChem 2013 Jan 3;8(1):43-8. Epub 2012 Dec 3.

Siemens Molecular Imaging Biomarker Research, 6100 Bristol Parkway, Culver City, CA 90230, USA.

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http://dx.doi.org/10.1002/cmdc.201200466DOI Listing
January 2013

Congenital B cell lymphocytosis explained by novel germline CARD11 mutations.

J Exp Med 2012 Nov 5;209(12):2247-61. Epub 2012 Nov 5.

Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health (NIH), Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1084/jem.20120831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501355PMC
November 2012

Deconstruction of a neural circuit for hunger.

Nature 2012 Aug;488(7410):172-7

Janelia Farm Research Campus, Howard Hughes Medical Institute, 19700 Helix Drive Ashburn, Virginia 20147, USA.

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http://dx.doi.org/10.1038/nature11270DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3416931PMC
August 2012

DOCK8 deficiency.

Ann N Y Acad Sci 2011 Dec;1246:26-33

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-1546, USA.

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http://doi.wiley.com/10.1111/j.1749-6632.2011.06295.x
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http://dx.doi.org/10.1111/j.1749-6632.2011.06295.xDOI Listing
December 2011

Hyperimmunoglobulin E syndromes in pediatrics.

Curr Opin Pediatr 2011 Dec;23(6):653-8

Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0b013e32834c7f65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3294453PMC
December 2011

DOCK8 is essential for T-cell survival and the maintenance of CD8+ T-cell memory.

Eur J Immunol 2011 Dec 10;41(12):3423-35. Epub 2011 Nov 10.

Nuffield Department of Medicine, Henry Wellcome Building of Molecular Physiology, Oxford University, Oxford, UK.

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http://dx.doi.org/10.1002/eji.201141759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517112PMC
December 2011

Cutaneous manifestations of DOCK8 deficiency syndrome.

Arch Dermatol 2012 Jan 19;148(1):79-84. Epub 2011 Sep 19.

Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1001/archdermatol.2011.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103903PMC
January 2012

Hunger states switch a flip-flop memory circuit via a synaptic AMPK-dependent positive feedback loop.

Cell 2011 Sep;146(6):992-1003

Janelia Farm Research Campus, Howard Hughes Medical Institute, 19700 Helix Drive, Ashburn, VA 20147, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286741100882
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http://dx.doi.org/10.1016/j.cell.2011.07.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209501PMC
September 2011

Chemical and genetic engineering of selective ion channel-ligand interactions.

Science 2011 Sep;333(6047):1292-6

Janelia Farm Research Campus, Howard Hughes Medical Institute, 19700 Helix Drive, Ashburn, VA 20147, USA.

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http://dx.doi.org/10.1126/science.1206606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3210548PMC
September 2011

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.

Nature 2011 Jul 27;475(7357):471-6. Epub 2011 Jul 27.

Molecular Development Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/nature10246DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3159560PMC
July 2011

Clustered Arg-Gly-Asp peptides enhances tumor targeting of nonviral vectors.

ChemMedChem 2011 Apr 24;6(4):623-7. Epub 2011 Jan 24.

Department of Chemical and Biomolecular Engineering, University of California, Los Angeles, 420 Westwood Plaza, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1002/cmdc.201000541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079200PMC
April 2011

Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome.

Dis Markers 2010 ;29(3-4):131-9

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://downloads.hindawi.com/journals/dm/2010/972591.pdf
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April 2011

Combined immunodeficiency associated with DOCK8 mutations and related immunodeficiencies.

Authors:
Helen C Su

Dis Markers 2010 ;29(3-4):121-2

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.3233/DMA-2010-0751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3835534PMC
April 2011

Dedicator of cytokinesis 8 (DOCK8) deficiency.

Authors:
Helen C Su

Curr Opin Allergy Clin Immunol 2010 Dec;10(6):515-20

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/ACI.0b013e32833fd718DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096565PMC
December 2010

Combined immunodeficiency associated with DOCK8 mutations.

N Engl J Med 2009 Nov 23;361(21):2046-55. Epub 2009 Sep 23.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1056/NEJMoa0905506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965730PMC
November 2009

A supramolecular approach for preparation of size-controlled nanoparticles.

Angew Chem Int Ed Engl 2009 ;48(24):4344-8

Crump Institute for Molecular Imaging, Department of Molecular and Medical Pharmacology, University of California, Los Angeles, 570 Westwood Plaza, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1002/anie.200900063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995451PMC
September 2009

Noninvasive imaging of alphaVbeta3 function as a predictor of the antimigratory and antiproliferative effects of dasatinib.

Cancer Res 2009 Apr 24;69(7):3173-9. Epub 2009 Mar 24.

Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095-6948, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-08-3390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749524PMC
April 2009

Derivation of a compartmental model for quantifying 64Cu-DOTA-RGD kinetics in tumor-bearing mice.

J Nucl Med 2009 Feb 21;50(2):250-8. Epub 2009 Jan 21.

Department of Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, University of California, Los Angeles, California 90095-6948, USA.

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http://jnm.snmjournals.org/cgi/doi/10.2967/jnumed.108.054049
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http://dx.doi.org/10.2967/jnumed.108.054049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319446PMC
February 2009

The technological transformation of patient-driven human immunology research.

Authors:
Helen C Su

Immunol Res 2009 ;43(1-3):167-71

National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10CRC, Room 5W3940, 10CRC Center Dr., MSC 1456, Bethesda, MD 20892-1456, USA.

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http://link.springer.com/10.1007/s12026-008-8062-9
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June 2009