Publications by authors named "Hye Sun Kuehn"

51Publications

N-Glycan Modification in Covid-19 Pathophysiology: In vitro Structural Changes with Limited Functional Effects.

J Clin Immunol 2020 Nov 27. Epub 2020 Nov 27.

Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Dr., Bldg 10, Rm. 2C410F, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-020-00905-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691692PMC
November 2020

Recurrent lymphadenitis in a female XIAP/BIRC4 mutation carrier with normal lyonization.

J Allergy Clin Immunol Pract 2020 Nov 16. Epub 2020 Nov 16.

Department of Pediatrics, Columbia University Irving Medical Center. New York, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2020.10.062DOI Listing
November 2020

POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.

J Clin Immunol 2020 Nov 2. Epub 2020 Nov 2.

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-020-00903-6DOI Listing
November 2020

Severe SARS-CoV-2 disease in the context of a NF-κB2 loss-of-function pathogenic variant.

J Allergy Clin Immunol 2020 Sep 30. Epub 2020 Sep 30.

Department of Pediatrics, Nationwide Children's Hospital and The Ohio State University College of Medicine, Columbus, Ohio; Center for Vaccines and Immunity, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio; Division of Infectious Diseases, Nationwide Children's Hospital, Columbus, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2020.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525247PMC
September 2020

Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB.

J Clin Immunol 2020 Oct 1. Epub 2020 Oct 1.

Department of Dermatology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1007/s10875-020-00877-5DOI Listing
October 2020

Progressive B Cell Loss in Revertant X-SCID.

J Clin Immunol 2020 Oct 17;40(7):1001-1009. Epub 2020 Jul 17.

Department of Pediatrics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, 90095, USA.

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http://dx.doi.org/10.1007/s10875-020-00825-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7508923PMC
October 2020

IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.

Immunol Allergy Clin North Am 2020 08;40(3):461-470

Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Drive, Building 10, Room 2C410F, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.iac.2020.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7394939PMC
August 2020

Treatment of anti-MDA5 autoantibody-positive juvenile dermatomyositis using tofacitinib.

Brain 2019 11;142(11):e59

Environmental Autoimmunity Group, Clinical Research Branch, National Institute of Environmental Health Sciences (NIEHS), NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/brain/awz293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821280PMC
November 2019

Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.

Front Immunol 2019 10;10:1433. Epub 2019 Jul 10.

Laboratory of Clinical Immunology and Microbiology, Immunopathogenesis Section, National Institute of Allergy and Immunology, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2019.01433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635460PMC
June 2020

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

J Allergy Clin Immunol 2019 07 6;144(1):339-342. Epub 2019 Apr 6.

Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.

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http://dx.doi.org/10.1016/j.jaci.2019.03.025DOI Listing
July 2019

Risks of Ruxolitinib in Gain-of-Function-Associated Severe Fungal Disease.

Open Forum Infect Dis 2017 22;4(4):ofx202. Epub 2017 Sep 22.

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

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https://academic.oup.com/ofid/article/doi/10.1093/ofid/ofx20
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http://dx.doi.org/10.1093/ofid/ofx202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5714179PMC
September 2017

A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.

J Allergy Clin Immunol 2018 01 18;141(1):432-435.e7. Epub 2017 Sep 18.

Clinical Immunology Research Laboratory, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Laboratory of Immunoregulation, VIB Inflammation Research Center, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588539PMC
January 2018

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Sci Rep 2017 06 16;7(1):3702. Epub 2017 Jun 16.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Centre for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/s41598-017-02434-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473876PMC
June 2017

First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

J Clin Immunol 2017 05 4;37(4):336-338. Epub 2017 Apr 4.

Immune Deficiency Genetics Section, Laboratory of Host Defenses, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10 CRC, Room 5-3950, 10 Center Drive, MSC 1456, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10875-017-0391-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082367PMC
May 2017

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

J Exp Med 2015 Sep 24;212(10):1641-62. Epub 2015 Aug 24.

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Enfants Malades Hospital, 75015 Paris, France University Paris Descartes, Imagine Institute, 75006 Paris, France

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http://dx.doi.org/10.1084/jem.20140280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577846PMC
September 2015

Hypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.

Ann Allergy Asthma Immunol 2015 Jul;115(1):1-3

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.anai.2015.04.024DOI Listing
July 2015

Intact IL-12 signaling is necessary for the generation of human natural killer cells with enhanced effector function after restimulation.

J Allergy Clin Immunol 2014 Nov 25;134(5):1190-3.e1. Epub 2014 Jul 25.

Laboratory of Molecular and Developmental Immunology, Division of Monoclonal Antibodies, Center for Drug Evaluation and Research, Food and Drug Administration, Bethesda, Md; BioCruces Health Research Institute, Barakaldo, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252978PMC
November 2014

Stem cell factor programs the mast cell activation phenotype.

J Immunol 2012 Jun 23;188(11):5428-37. Epub 2012 Apr 23.

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

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http://dx.doi.org/10.4049/jimmunol.1103366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3358494PMC
June 2012

Distinct PGE2-responder and non-responder phenotypes in human mast cell populations: "all or nothing" enhancement of antigen-dependent mediator release.

Immunol Lett 2011 Dec 20;141(1):45-54. Epub 2011 Jul 20.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1881, USA.

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http://dx.doi.org/10.1016/j.imlet.2011.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205336PMC
December 2011

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

J Immunol 2011 May 13;186(10):6035-43. Epub 2011 Apr 13.

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD 20814, USA.

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http://dx.doi.org/10.4049/jimmunol.1100021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725553PMC
May 2011

Measuring mast cell mediator release.

Curr Protoc Immunol 2010 Nov;Chapter 7:Unit7.38

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

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http://dx.doi.org/10.1002/0471142735.im0738s91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2982193PMC
November 2010

Prostaglandin E2 activates and utilizes mTORC2 as a central signaling locus for the regulation of mast cell chemotaxis and mediator release.

J Biol Chem 2011 Jan 27;286(1):391-402. Epub 2010 Oct 27.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1074/jbc.M110.164772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3012997PMC
January 2011

Generation, isolation, and maintenance of human mast cells and mast cell lines derived from peripheral blood or cord blood.

Curr Protoc Immunol 2010 Aug;Chapter 7:Unit 7.37

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

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http://doi.wiley.com/10.1002/0471142735.im0737s90
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http://dx.doi.org/10.1002/0471142735.im0737s90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923748PMC
August 2010

Btk-dependent Rac activation and actin rearrangement following FcepsilonRI aggregation promotes enhanced chemotactic responses of mast cells.

J Cell Sci 2010 Aug 29;123(Pt 15):2576-85. Epub 2010 Jun 29.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive MSC 1881, Bethesda, MD 20892-1881, USA.

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http://dx.doi.org/10.1242/jcs.071043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908047PMC
August 2010

Downregulation of Wnt-mediated ROS generation is causally implicated in leprechaunism.

Mol Cells 2010 Jan 18;29(1):63-9. Epub 2009 Dec 18.

Department of Life Sciences, Ewha Womans University, Seoul, 120-750, Korea.

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http://link.springer.com/10.1007/s10059-010-0017-z
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http://dx.doi.org/10.1007/s10059-010-0017-zDOI Listing
January 2010

Glycogen synthase kinase 3beta activation is a prerequisite signal for cytokine production and chemotaxis in human mast cells.

J Immunol 2010 Jan 11;184(2):564-72. Epub 2009 Dec 11.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892-1881, USA.

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http://dx.doi.org/10.4049/jimmunol.0902931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957662PMC
January 2010

RGS13 controls g protein-coupled receptor-evoked responses of human mast cells.

J Immunol 2008 Dec;181(11):7882-90

Molecular Signal Transduction Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2693264PMC
http://dx.doi.org/10.4049/jimmunol.181.11.7882DOI Listing
December 2008

The phosphoinositide 3-kinase-dependent activation of Btk is required for optimal eicosanoid production and generation of reactive oxygen species in antigen-stimulated mast cells.

J Immunol 2008 Dec;181(11):7706-12

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709775PMC
http://dx.doi.org/10.4049/jimmunol.181.11.7706DOI Listing
December 2008

Activation and function of the mTORC1 pathway in mast cells.

J Immunol 2008 Apr;180(7):4586-95

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698706PMC
http://dx.doi.org/10.4049/jimmunol.180.7.4586DOI Listing
April 2008

Synergistic activation of phospholipases Cgamma and Cbeta: a novel mechanism for PI3K-independent enhancement of FcepsilonRI-induced mast cell mediator release.

Cell Signal 2008 Apr 22;20(4):625-36. Epub 2008 Jan 22.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive MSC 1881, Bethesda, MD 20892-1881, USA.

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http://dx.doi.org/10.1016/j.cellsig.2007.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2692074PMC
April 2008

G protein-coupled receptors and the modification of FcepsilonRI-mediated mast cell activation.

Immunol Lett 2007 Nov 18;113(2):59-69. Epub 2007 Sep 18.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive MSC 1881, Bethesda, MD 20892-1881, USA.

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http://dx.doi.org/10.1016/j.imlet.2007.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2094129PMC
November 2007