Department of Laboratory Medicine Staff

Hye Sun Kuehn, PhD


Dr. Kuehn received her M.S. and Ph.D. from the Department of Molecular Life Science of EWHA Woman’s University in Seoul, Korea, followed by a post-doctoral fellowship in the Laboratory of Allergic Diseases at NIAID.

In 2010, she joined the Department of Laboratory Medicine at the NIH Clinical Center as a research biologist in the Immunology Service. Dr. Kuehn has been a Staff Scientist in the Immunology Service since 2014.

In 2015, Dr. Kuehn received the NIAID Merit Awards from NIH, in addition to receiving the NIH Clinical Center Director’s Award in 2016.

Her primary research is focused on the clinical and molecular characterization of novel primary immunodeficiency diseases. Her most recent efforts have involved studies of CTLA4 deficiency, PIK3CD gain-of-function (GOF), NF-kB2 GOF, IKZF1/IKAROS haploinsufficiency and dominant negative mutations in patients with primary immunodeficiency diseases.

Research Interests

Dr. Kuehn’s research focuses on identifying the genetic causes and understanding the pathophysiology underlying patients with primary immunodeficiency (PID).  Dr. Kuehn’s research focuses on 1) identification of monogenic or complex genetic PID using next generation sequencing and other novel technologies, 2) development of functional and molecular immunology tests to validate the genetic pathogenic variants found, and 3) defining the molecular and cellular mechanisms of candidate gene/allelic variants in PID.

Dr. Kuehn’s ongoing research includes germline genetic variants of IKAROS and NF-kB2 in the pathogenesis of common variable immunodeficiency (CVID)/combined immunodeficiency (CID). In addition, her group is working on other candidate genes/allelic variants and pathways including CARD9, IKZF2, JAK/STAT, PI3K, NF-kB pathway, among other projects.

Selected Publications

David Boutboul*, Hye Sun Kuehn*,  Zoé Van de Wyngaert, Julie E. Niemela, Isabelle Callebaut, Jennifer Stoddard, Christelle Lenoir, Vincent Barlogis, Catherine Farnarier, Frédéric Vely, Nao Yoshida, Seiji Kojima, Hirokazu Kanegane, Akihiro Hoshino, Fabian Hauck, Ludovic Lhermitte, Vahid Asnafi, Philip Roehrs, Shaoying Chen, James W. Verbsky, Katherine R. Calvo, Ammar Husami, Kejian Zhang, Joseph Roberts, David Amrol, John Sleaseman, Amy P. Hsu, Steven M. Holland, Rebecca Marsh, Alain Fischer, Thomas A. Fleisher, Capucine Picard, Sylvain Latour, and Sergio D. Rosenzweig. Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. J Clin Invest. 2018 Jul 2;128(7):3071-3087

Hye Sun Kuehn, Julie E. Niemela, Karthik Sreedhara, Jennifer L. Stoddard, Jennifer Grossman, Christian A. Wysocki, M. Teresa de la Morena, Mary Garofalo, Jingga Inlora, Michael P. Snyder, David B. Lewis, Constantine A. Stratakis, Thomas A. Fleisher, Sergio D. Rosenzweig. Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype. Blood. 2017 Sep 28;130(13):1553-1564

Hye Sun Kuehn*, Bertrand Boisson*, Charlotte Cunningham-Rundles, Janine Reichenbach, Asbjørg Stray-Pedersen, Erwin W. Gelfand, Patrick Maffucci, Keith R. Pierce, Jordan K. Abbott, Karl V. Voelkerding, Sarah T. South, Nancy H. Augustine, Jeana S. Bush, William K. Dolen, Betty B. Wray, Yuval Itan, Aurelie Cobat, Hanne Sørmo Sorte, Sundar Ganesan, Seraina Prader, Thomas B. Martins, Monica G. Lawrence, Jordan S. Orange, Katherine R. Calvo, Julie E. Niemela, Jean-Laurent Casanova, Thomas A. Fleisher, Harry R. Hill, Attila Kumanovics, Mary Ellen Conley, Sergio D. Rosenzweig. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. N Engl J Med. 2016 Mar 17;374(11):1032-43

Hye Sun Kuehn*, Weiming Ouyang*, Bernice Lo*, Elissa K. Deenick, Julie E. Niemela, Danielle T. Avery, Jean-Nicolas Schickel, Dat Q. Tran, Jennifer Stoddard, Yu Zhang, David M. Frucht, Bogdan Dumitriu, Phillip Scheinberg, Les R. Folio, Cathleen A. Frein, Susan Price, Christopher Koh, Theo Heller, Christine M. Seroogy, Anna Huttenlocher,V. Koneti Rao, Helen C. Su, David Kleiner, Luigi D. Notarangelo, Yajesh Rampertaap, Kenneth N. Olivier, Joshua McElwee, Jason Hughes, Stefania Pittaluga, Joao B. Oliveira, Eric Meffre, Thomas A. Fleisher, Steven M. Holland, Michael J. Lenardo, Stuart G. Tangye, Gulbu Uzel. Haploinsufficiency of CTLA-4 due to Heterozygous Germline Mutations Causes Human Immune Dysregulation. Science. 2014 Sep 26;345(6204):1623-7

Carrie L Lucas*, Hye Sun Kuehn*, Fang Zhao*, Julie Niemela, Elissa Deenick, Umaimainthan Palendira, Danielle T Avery, Leen Moens, Jennifer L Cannons, Matthew Biancalana, Jennifer Stoddard, Weiming Ouyang, David M Frucht, V Koneti Rao, T Prescott Atkinson, Anahita Agharahimi, Ashleigh Hussey, Les R Folio, Kenneth N Olivier, Thomas A Fleisher, Stefania Pittaluga, Steven M Holland, Jeffrey I Cohen, Joao B Oliveira, Stuart G Tangye, Pamela L Schwartzberg, Michael J Lenardo & Gulbu Uzel. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nature Immunology. 2014 Jan;15(1):88-97

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