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Hye Sun Kuehn
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Journal Articles

PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration

Ana Esteve Sole, Seungmae Seo, Pierre Martine, Luis Ignacio Gonzalez-Granado, Colin L Sweeney, Agustin G. Silva, Brigette Boast, Julie E. Niemela, Jennifer L. Stoddart, Leticia Pias, Merce Bolasell, Ana V. Marin, Jose R Regueiro, Laia Alsina, Kalpana Upadhyaya, Katherine Calvo, Kate Brown, David Lopez-Perez, Juan Francisco Quesada, Harry Malech, Cathryn L Haigh, Ettore Apella, Emily Mace, Hye Sun Kuehn, Sergio D Rosenzweig
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.110.
https://doi.org/10.70962/CIS2025abstract.110
Published: 25 April 2025
View article titled, PPM1D-Mediated Regulation of the DNA Damage Repair Pathway in NK Cell Development and Migration
Journal Articles

STAT5B Haploinsufficiency Presenting with Severe Atopic Dermatitis Without Immune Dysregulation

Crhistian Toribio Dionicio, Yihui Liu, Julie Niemela, Hye Sun Kuehn, Celeste Nelson, Sergio Rosenzweig, Monica Lawrence, Jonathan Lyons
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.168.
https://doi.org/10.70962/CIS2025abstract.168
Published: 25 April 2025
View article titled, STAT5B Haploinsufficiency Presenting with Severe Atopic Dermatitis Without Immune Dysregulation
Journal Articles

Preserved CD8+ T Cells, Severe Viral Infections, Profound Immune Dysregulation, and Variable Expressivity in a Kindred with Novel, Homozygous Pathogenic ZAP70 Splice-Site Variants

Jessica Durkee-Shock, Hye Sun Kuehn, Dimana Dimitrova, David Kleiner, Peiying Ye, Elaine Jaffe, Jennifer Kanakry, Colleen Jodarski, Anahita Agharahimi, Justina Pfister, Krista Gangler, Kayla Morgan, Kelly Liepshutz, Morgan Similuk, Magdalena Walkiewicz, Andrea Lisco, Jeffrey Cohen
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.53.
https://doi.org/10.70962/CIS2025abstract.53
Published: 25 April 2025
View article titled, Preserved CD8+ T Cells, Severe Viral Infections, Profound Immune Dysregulation, and Variable Expressivity in a Kindred with Novel, Homozygous Pathogenic ZAP70 Splice-Site Variants
Journal Articles

Clinical Characteristics and Outcomes of Leukemia in Patients with Germline IKZF1 Mutations

Harry Layton Lesmana, Seth Rotz, Hye Sun Kuehn, Sergio D Rosenzweig
Journal: Journal of Human Immunity
Series: CIS Meeting Abstracts 2025
J Hum Immun (2025) 1 (CIS2025): CIS2025abstract.192.
https://doi.org/10.70962/CIS2025abstract.192
Published: 25 April 2025
View article titled, Clinical Characteristics and Outcomes of Leukemia in Patients with Germline IKZF1 Mutations
Journal Articles

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

In Special Collection:
2022 Clinical Collection on Cancer , Journal-Based CME Activities with Journal of Experimental Medicine (JEM)
Hye Sun Kuehn, Jingjie Chang, Motoi Yamashita, Julie E. Niemela, Chengcheng Zou, Kazuki Okuyama, Junji Harada, Jennifer L. Stoddard, Cristiane J. Nunes-Santos, Brigette Boast, Ryan M. Baxter, Elena W.Y. Hsieh, Mary Garofalo, Thomas A. Fleisher, Tomohiro Morio, Ichiro Taniuchi, Cullen M. Dutmer, Sergio D. Rosenzweig
Journal: Journal of Experimental Medicine
J Exp Med (2021) 218 (12): e20211118.
https://doi.org/10.1084/jem.20211118
Published: 25 October 2021
View article titled, T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients
Open the PDF for T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients in another window
Includes: Supplementary data
Journal Articles

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

In Special Collection:
2019: The Year in Experimental Medicine
Sarah Spencer, Sevgi Köstel Bal, William Egner, Hana Lango Allen, Syed I. Raza, Chi A. Ma, Meltem Gürel, Yuan Zhang, Guangping Sun, Ruth A. Sabroe, Daniel Greene, William Rae, Tala Shahin, Katarzyna Kania, Rico Chandra Ardy, Marini Thian, Emily Staples, Annika Pecchia-Bekkum, William P.M. Worrall, Jonathan Stephens, Matthew Brown, Salih Tuna, Melanie York, Fiona Shackley, Diarmuid Kerrin, Ravishankar Sargur, Alison Condliffe, Hamid Nawaz Tipu, Hye Sun Kuehn, Sergio D. Rosenzweig, Ernest Turro, Simon Tavaré, Adrian J. Thrasher, Duncan Ian Jodrell, Kenneth G.C. Smith, Kaan Boztug, Joshua D. Milner, James E.D. Thaventhiran
Journal: Journal of Experimental Medicine
J Exp Med (2019) 216 (9): 1986–1998.
https://doi.org/10.1084/jem.20190344
Published: 24 June 2019
View article titled, Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Open the PDF for Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses in another window
Includes: Supplementary data
Journal Articles

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Stefano Volpi, Yasuhiro Yamazaki, Patrick M. Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Prisni Rath, Nicole Luche, Elliott J. Hagedorn, Antonella Buoncompagni, Beryl Royer-Bertrand, Silvia Giliani, Pietro Luigi Poliani, Luisa Imberti, Kerry Dobbs, Fabienne E. Poulain, Alberto Martini, John Manis, Robert J. Linhardt, Marita Bosticardo, Sergio Damian Rosenzweig, Hane Lee, Jennifer M. Puck, Juan Carlos Zúñiga-Pflücker, Leonard Zon, Pyong Woo Park, Andrea Superti-Furga, Luigi D. Notarangelo
Journal: Journal of Experimental Medicine
J Exp Med (2017) 214 (3): 623–637.
https://doi.org/10.1084/jem.20161525
Published: 01 February 2017
View article titled, EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
Open the PDF for EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay in another window
Includes: Supplementary data
Journal Articles

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

Alexandra Y. Kreins, Michael J. Ciancanelli, Satoshi Okada, Xiao-Fei Kong, Noé Ramírez-Alejo, Sara Sebnem Kilic, Jamila El Baghdadi, Shigeaki Nonoyama, Seyed Alireza Mahdaviani, Fatima Ailal, Aziz Bousfiha, Davood Mansouri, Elma Nievas, Cindy S. Ma, Geetha Rao, Andrea Bernasconi, Hye Sun Kuehn, Julie Niemela, Jennifer Stoddard, Paul Deveau, Aurelie Cobat, Safa El Azbaoui, Ayoub Sabri, Che Kang Lim, Mikael Sundin, Danielle T. Avery, Rabih Halwani, Audrey V. Grant, Bertrand Boisson, Dusan Bogunovic, Yuval Itan, Marcela Moncada-Velez, Ruben Martinez-Barricarte, Melanie Migaud, Caroline Deswarte, Laia Alsina, Daniel Kotlarz, Christoph Klein, Ingrid Muller-Fleckenstein, Bernhard Fleckenstein, Valerie Cormier-Daire, Stefan Rose-John, Capucine Picard, Lennart Hammarstrom, Anne Puel, Saleh Al-Muhsen, Laurent Abel, Damien Chaussabel, Sergio D. Rosenzweig, Yoshiyuki Minegishi, Stuart G. Tangye, Jacinta Bustamante, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis
Journal: Journal of Experimental Medicine
J Exp Med (2015) 212 (10): 1641–1662.
https://doi.org/10.1084/jem.20140280
Published: 24 August 2015
View article titled, Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
Open the PDF for Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome in another window
Includes: Supplementary data