Publications by authors named "Helen C Su"

75Publications

Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation.

Authors:
Qian Zhang Paul Bastard Alexandre Bolze Emmanuelle Jouanguy Shen-Ying Zhang Aurélie Cobat Luigi D Notarangelo Helen C Su Laurent Abel Jean-Laurent Casanova

Med (N Y) 2020 Dec;1(1):14-20

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

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December 2020

Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.

Authors:
Morgan N Similuk Jia Yan Michael R Setzer Leila Jamal Patricia Littel Michael Lenardo Helen C Su

J Genet Couns 2020 Dec 15. Epub 2020 Dec 15.

Division of Intramural Research, National Institute of Allergy and Infectious Diseases, Bethesda, MD, USA.

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December 2020

An immune-based biomarker signature is associated with mortality in COVID-19 patients.

Authors:
Michael S Abers Ottavia M Delmonte Emily E Ricotta Jonathan Fintzi Danielle L Fink Adriana A Almeida de Jesus Kol A Zarember Sara Alehashemi Vasileios Oikonomou Jigar V Desai Scott W Canna Bita Shakoory Kerry Dobbs Luisa Imberti Alessandra Sottini Eugenia Quiros-Roldan Francesco Castelli Camillo Rossi Duilio Brugnoni Andrea Biondi Laura Rachele Bettini Mariella D'Angio' Paolo Bonfanti Riccardo Castagnoli Daniela Montagna Amelia Licari Gian Luigi Marseglia Emily F Gliniewicz Elana Shaw Dana E Kahle Andre T Rastegar Michael Stack Katherine Myint-Hpu Susan L Levinson Mark J DiNubile Daniel W Chertow Peter D Burbelo Jeffrey I Cohen Katherine R Calvo John S Tsang Helen C Su John I Gallin Douglas B Kuhns Raphaela Goldbach-Mansky Michail S Lionakis Luigi D Notarangelo

JCI Insight 2021 01 11;6(1). Epub 2021 Jan 11.

Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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January 2021

Migration-induced cell shattering due to DOCK8 deficiency causes a type 2-biased helper T cell response.

Authors:
Caitlin Schneider Connie Shen Angelica A Gopal Todd Douglas Benjamin Forestell Keith D Kauffman Dakota Rogers Patricio Artusa Qian Zhang Huie Jing Alexandra F Freeman Daniel L Barber Irah L King Maya Saleh Paul W Wiseman Helen C Su Judith N Mandl

Nat Immunol 2020 Dec 5;21(12):1528-1539. Epub 2020 Oct 5.

Department of Microbiology and Immunology, McGill University, Montreal, Quebec, Canada.

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December 2020

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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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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October 2020

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

Authors:
Matthew K Schindler Stefania Pittaluga Yoshimi Enose-Akahata Helen C Su V Koneti Rao Amy Rump Steven Jacobson Irene Cortese Daniel S Reich Gulbu Uzel

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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October 2020

Serological Responses to Human Virome Define Clinical Outcomes of Italian Patients Infected with SARS-CoV-2.

Authors:
Limin Wang Julian Candia Lichun Ma Yongmei Zhao Luisa Imberti Alessandra Sottini Kerry Dobbs Andrea Lisco Irini Sereti Helen C Su Luigi D Notarangelo Xin Wei Wang

medRxiv 2020 Sep 7. Epub 2020 Sep 7.

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September 2020

Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels.

Authors:
Thomas M Snyder Rachel M Gittelman Mark Klinger Damon H May Edward J Osborne Ruth Taniguchi H Jabran Zahid Ian M Kaplan Jennifer N Dines Matthew N Noakes Ravi Pandya Xiaoyu Chen Summer Elasady Emily Svejnoha Peter Ebert Mitchell W Pesesky Patricia De Almeida Hope O'Donnell Quinn DeGottardi Gladys Keitany Jennifer Lu Allen Vong Rebecca Elyanow Paul Fields Julia Greissl Lance Baldo Simona Semprini Claudio Cerchione Massimiliano Mazza Ottavia M Delmonte Kerry Dobbs Gonzalo Carreño-Tarragona Santiago Barrio Luisa Imberti Alessandra Sottini Eugenia Quiros-Roldan Camillo Rossi Andrea Biondi Laura Rachele Bettini Mariella D'Angio Paolo Bonfanti Miranda F Tompkins Camille Alba Clifton Dalgard Vittorio Sambri Giovanni Martinelli Jason D Goldman James R Heath Helen C Su Luigi D Notarangelo Joaquin Martinez-Lopez Jonathan M Carlson Harlan S Robins

medRxiv 2020 Aug 4. Epub 2020 Aug 4.

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August 2020

Human inborn errors of immunity: An expanding universe.

Authors:
Luigi D Notarangelo Rosa Bacchetta Jean-Laurent Casanova Helen C Su

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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July 2020

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.

Authors:
Sujal Ghosh Sevgi Köstel Bal Emily S J Edwards Bethany Pillay Raúl Jiménez Heredia Funda Erol Cipe Geetha Rao Elisabeth Salzer Samaneh Zoghi Hassan Abolhassani Tooba Momen Emma Gostick David A Price Yu Zhang Andrew J Oler Claudia Gonzaga-Jauregui Baran Erman Ayse Metin Inci Ilhan Sule Haskologlu Candan Islamoglu Kubra Baskin Serdar Ceylaner Ebru Yilmaz Ekrem Unal Musa Karakukcu Dagmar Berghuis Theresa Cole Aditya K Gupta Fabian Hauck Hubert Kogler Andy I M Hoepelman Safa Baris Elif Karakoc-Aydiner Ahmet Ozen Leo Kager Dirk Holzinger Michael Paulussen Renate Krüger Roland Meisel Prasad T Oommen Emma Morris Benedicte Neven Austen Worth Joris van Montfrans Pieter L A Fraaij Sharon Choo Figen Dogu E Graham Davies Siobhan Burns Gregor Dückers Ruy Perez Becker Horst von Bernuth Sylvain Latour Maura Faraci Marco Gattorno Helen C Su Qiang Pan-Hammarström Lennart Hammarström Michael J Lenardo Cindy S Ma Tim Niehues Asghar Aghamohammadi Nima Rezaei Aydan Ikinciogullari Stuart G Tangye Arjan C Lankester Kaan Boztug

Blood 2020 Dec;136(23):2638-2655

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.

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December 2020

Cryptosporidium infection in dedicator of cytokinesis 8 (DOCK 8) deficiency.

Authors:
Gil Ben Yakov Disha Sharma Min H Cho Nirali N Shah Dennis Hickstein Amanda Urban Dirk Darnell Devika Kapuria Jamie Marko David E Kleiner Colleen M Hadigan Jeffrey Danielson Hyoungjun Ham Anusha Vittal Helen C Su Alexandra F Freeman Theo Heller

J Allergy Clin Immunol Pract 2020 Nov - Dec;8(10):3663-3666.e1. Epub 2020 Jun 22.

Translational Hepatology Section, Liver Diseases Branch, NIDDK, NIH, Bethesda, Md. Electronic address:

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June 2020

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

Authors:
Shen-Ying Zhang Qian Zhang Jean-Laurent Casanova Helen C Su

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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August 2020

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

Authors:
Helen C Su Jordan S Orange

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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May 2020

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

Authors:
Jean-Laurent Casanova Helen C Su

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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June 2020

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.

Authors:
Christopher J Collins Fan Yi Remwilyn Dayuha Jeffrey R Whiteaker Hans D Ochs Alexandra Freeman Helen C Su Amanda G Paulovich Gesmar R S Segundo Troy Torgerson Si Houn Hahn

Front Immunol 2020 1;11:464. Epub 2020 Apr 1.

Seattle Children's Research Institute, Seattle, WA, United States.

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April 2020

Genetic determinants of host immunity against human rhinovirus infections.

Authors:
Ian T Lamborn Helen C Su

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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June 2020

Human Plasma-like Medium Improves T Lymphocyte Activation.

Authors:
Michael A Leney-Greene Arun K Boddapati Helen C Su Jason R Cantor Michael J Lenardo

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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January 2020

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

Authors:
Juan C Ravell Mami Matsuda-Lennikov Samuel D Chauvin Juan Zou Matthew Biancalana Sally J Deeb Susan Price Helen C Su Giulia Notarangelo Ping Jiang Aaron Morawski Chrysi Kanellopoulou Kyle Binder Ratnadeep Mukherjee James T Anibal Brian Sellers Lixin Zheng Tingyan He Alex B George Stefania Pittaluga Astin Powers David E Kleiner Devika Kapuria Marc Ghany Sally Hunsberger Jeffrey I Cohen Gulbu Uzel Jenna Bergerson Lynne Wolfe Camilo Toro William Gahl Les R Folio Helen Matthews Pam Angelus Ivan K Chinn Jordan S Orange Claudia M Trujillo-Vargas Jose Luis Franco Julio Orrego-Arango Sebastian Gutiérrez-Hincapié Niraj Chandrakant Patel Kimiyo Raymond Turkan Patiroglu Ekrem Unal Musa Karakukcu Alexandre Gr Day Pankaj Mehta Evan Masutani Suk S De Ravin Harry L Malech Grégoire Altan-Bonnet V Koneti Rao Matthias Mann Michael J Lenardo

J Clin Invest 2020 01;130(1):507-522

Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.

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January 2020

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

Authors:
Huie Jing Helen C Su

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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December 2019