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Journal Articles

Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans

Quentin Riller, Boris Sorin, Charline Courteille, Duong Ho-Nhat, Tom Le Voyer, Jean-Christophe Debray, Marie-Claude Stolzenberg, Muriel Schmutz, Olivier Pellé, Thomas Becquard, María Rodrigo Riestra, Laureline Berteloot, Mélanie Migaud, Laure Delage, Marie Jeanpierre, Charlotte Boussard, Camille Brunaud, Aude Magérus, Charles Bretot, Victor Michel, Camille Roux, Capucine Picard, Cécile Masson, Christine Bole-Feysot, Nicolas Cagnard, Aurélien Corneau, Isabelle Meyts, Véronique Baud, Jean-Laurent Casanova, Alain Fischer, Emmanuel Dejardin, Anne Puel, Cécile Boulanger, Bénédicte Neven, Frédéric Rieux-Laucat
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (2): e20240843.
https://doi.org/10.1084/jem.20240843
Published: 15 January 2025
View article titled, Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans
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Includes: Supplementary data
Journal Articles

Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity

Shuo Ru, Sisi Tang, Hui Xu, Jiahao Yin, Yan Guo, Liuping Song, Zhenyu Jin, Danyel Lee, Yi-Hao Chan, Xingyao Chen, Luke Buerer, William Fairbrother, Weidong Jia, Jean-Laurent Casanova, Shen-Ying Zhang, Daxing Gao
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20240010.
https://doi.org/10.1084/jem.20240010
Published: 05 December 2024
View article titled, Human DBR1 deficiency impairs stress granule–dependent PKR antiviral immunity
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Includes: Supplementary data
Journal Articles

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency

In Special Collection:
Tissue Microenvironment and Immune Memory
Elena Blanco, Carme Camps, Sameer Bahal, Mohit D. Kerai, Matteo P. Ferla, Adam M. Rochussen, Adam E. Handel, Zainab M. Golwala, Helena Spiridou Goncalves, Susanne Kricke, Fabian Klein, Fang Zhang, Federica Zinghirino, Grace Evans, Thomas M. Keane, Sabrina Lizot, Maaike A.A. Kusters, Mildred A. Iro, Sanjay V. Patel, Emma C. Morris, Siobhan O. Burns, Ruth Radcliffe, Pradeep Vasudevan, Arthur Price, Olivia Gillham, Gabriel E. Valdebenito, Grant S. Stewart, Austen Worth, Stuart P. Adams, Michael Duchen, Isabelle André, David J. Adams, Giorgia Santili, Kimberly C. Gilmour, Georg A. Holländer, E. Graham Davies, Jenny C. Taylor, Gillian M. Griffiths, Adrian J. Thrasher, Fatima Dhalla, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 222 (1): e20220979.
https://doi.org/10.1084/jem.20220979
Published: 19 November 2024
View article titled, Dominant negative variants in <em>ITPR3</em> impair T cell Ca<sup>2+</sup> dynamics causing combined immunodeficiency
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Includes: Supplementary data
Journal Articles

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis

Sina Ghasempour, Neil Warner, Rei Guan, Marco M. Rodari, Danton Ivanochko, Ryder Whittaker Hawkins, Ashish Marwaha, Jan K. Nowak, Yijing Liang, Daniel J. Mulder, Lorraine Stallard, Michael Li, Daniel D. Yu, Fred G. Pluthero, Vritika Batura, Mo Zhao, Iram Siddiqui, Julia E.M. Upton, Jessie M. Hulst, Walter H.A. Kahr, Roberto Mendoza-Londono, Fabienne Charbit-Henrion, Lies H. Hoefsloot, Anis Khiat, Diana Moreira, Eunice Trindade, Maria do Céu Espinheira, Isabel Pinto Pais, Marjolein J.A. Weerts, Hannie Douben, Daniel Kotlarz, Scott B. Snapper, Christoph Klein, James J. Dowling, Jean-Philippe Julien, Marieke Joosten, Nadine Cerf-Bensussan, Spencer A. Freeman, Marianna Parlato, Tjakko J. van Ham, Aleixo M. Muise
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (12): e20240546.
https://doi.org/10.1084/jem.20240546
Published: 11 November 2024
View article titled, Human <em>ITGAV</em> variants are associated with immune dysregulation, brain abnormalities, and colitis
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Includes: Supplementary data
Journal Articles

Finding NEMO in the thymus

Juan Moises Ocampo-Godinez, Alexandra Y. Kreins
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (11): e20241590.
https://doi.org/10.1084/jem.20241590
Published: 21 October 2024
View article titled, Finding NEMO in the thymus
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Journal Articles

RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation

Anne Doye, Paul Chaintreuil, Chantal Lagresle-Peyrou, Ludovic Batistic, Valentine Marion, Patrick Munro, Celine Loubatier, Rayana Chirara, Nataël Sorel, Boris Bessot, Pauline Bronnec, Julie Contenti, Johan Courjon, Valerie Giordanengo, Arnaud Jacquel, Pascal Barbry, Marie Couralet, Nathalie Aladjidi, Alain Fischer, Marina Cavazzana, Coralie Mallebranche, Orane Visvikis, Sven Kracker, Despina Moshous, Els Verhoeyen, Laurent Boyer
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (10): e20231562.
https://doi.org/10.1084/jem.20231562
Published: 30 August 2024
View article titled, RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation
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Includes: Supplementary data
Journal Articles

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency

Yi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, Jiayi Yuan, Danyel Lee, Francesca Pinci, Stefano Volpi, Koji Nakajima, Vincent Bondet, Sanna Åkesson, Noopur V. Khobrekar, Aaron Bodansky, Likun Du, Tina Melander, Alice-Andrée Mariaggi, Yoann Seeleuthner, Tariq Shikh Saleh, Debanjana Chakravarty, Per Marits, Kerry Dobbs, Sofie Vonlanthen, Viktoria Hennings, Karolina Thörn, Darawan Rinchai, Lucy Bizien, Matthieu Chaldebas, Ali Sobh, Tayfun Özçelik, Sevgi Keles, Suzan A. AlKhater, Carolina Prando, Isabelle Meyts, COVID Human Genetic Effort, Michael R. Wilson, Jérémie Rosain, Emmanuelle Jouanguy, Mélodie Aubart, Laurent Abel, Trine H. Mogensen, Qiang Pan-Hammarström, Daxing Gao, Darragh Duffy, Aurélie Cobat, Stefan Berg, Luigi D. Notarangelo, Oliver Harschnitz, Charles M. Rice, Lorenz Studer, Jean-Laurent Casanova, Olov Ekwall, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20231725.
https://doi.org/10.1084/jem.20231725
Published: 18 July 2024
View article titled, SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency
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Includes: Supplementary data
Journal Articles

Loss of tolerance precedes triggering and lifelong persistence of pathogenic type I interferon autoantibodies

In Special Collection:
Cytokines Collection 2024
Sonja Fernbach, Nina K. Mair, Irene A. Abela, Kevin Groen, Roger Kuratli, Marie Lork, Christian W. Thorball, Enos Bernasconi, Paraskevas Filippidis, Karoline Leuzinger, Julia Notter, Andri Rauch, Hans H. Hirsch, Michael Huber, Huldrych F. Günthard, Jacques Fellay, Roger D. Kouyos, Benjamin G. Hale, The Swiss HIV Cohort Study
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (9): e20240365.
https://doi.org/10.1084/jem.20240365
Published: 17 July 2024
View article titled, Loss of tolerance precedes triggering and lifelong persistence of pathogenic type I interferon autoantibodies
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Includes: Supplementary data
Journal Articles

A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice

In Special Collection:
Autoimmunity 2024
Kelsey A. Toth, Erica G. Schmitt, Ana Kolicheski, Zev J. Greenberg, Elizabeth Levendosky, Nermina Saucier, Kelsey Trammel, Vasileios Oikonomou, Michail S. Lionakis, Eynav Klechevsky, Brian S. Kim, Laura G. Schuettpelz, Naresha Saligrama, Megan A. Cooper
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (8): e20232091.
https://doi.org/10.1084/jem.20232091
Published: 11 June 2024
View article titled, A human STAT3 gain-of-function variant drives local Th17 dysregulation and skin inflammation in mice
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Journal Articles

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

In Special Collection:
JEM Clinical Immunology Collection 2024
Tamara Kögl, Hsin-Fang Chang, Julian Staniek, Samuel C.C. Chiang, Gudrun Thoulass, Jessica Lao, Kristoffer Weißert, Viviane Dettmer-Monaco, Kerstin Geiger, Paul T. Manna, Vivien Beziat, Mana Momenilandi, Szu-Min Tu, Selina J. Keppler, Varsha Pattu, Philipp Wolf, Laurence Kupferschmid, Stefan Tholen, Laura E. Covill, Karolina Ebert, Tobias Straub, Miriam Groß, Ruth Gather, Helena Engel, Ulrich Salzer, Christoph Schell, Sarah Maier, Kai Lehmberg, Tatjana I. Cornu, Hanspeter Pircher, Mohammad Shahrooei, Nima Parvaneh, Roland Elling, Marta Rizzi, Yenan T. Bryceson, Stephan Ehl, Peter Aichele, Sandra Ammann
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (7): e20221122.
https://doi.org/10.1084/jem.20221122
Published: 09 May 2024
View article titled, Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect
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Includes: Supplementary data
Journal Articles

OTULIN and Muller’s morphs

András N. Spaan
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20240418.
https://doi.org/10.1084/jem.20240418
Published: 23 April 2024
View article titled, OTULIN and Muller’s morphs
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Journal Articles

A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome

In Special Collection:
2024: The Year in Experimental Medicine
Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K. Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (6): e20231941.
https://doi.org/10.1084/jem.20231941
Published: 23 April 2024
View article titled, A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome
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Includes: Supplementary data
Journal Articles

Helper T cell immunity in humans with inherited CD4 deficiency

In Special Collection:
Journal-Based CME Activities with Journal of Experimental Medicine (JEM) , Thymus, T Cell Development, and Inborn Errors
Antoine Guérin, Marcela Moncada-Vélez, Katherine Jackson, Masato Ogishi, Jérémie Rosain, Mathieu Mancini, David Langlais, Andrea Nunez, Samantha Webster, Jesse Goyette, Taushif Khan, Nico Marr, Danielle T. Avery, Geetha Rao, Tim Waterboer, Birgitta Michels, Esmeralda Neves, Cátia Iracema Morais, Jonathan London, Stéphanie Mestrallet, Pierre Quartier dit Maire, Bénédicte Neven, Franck Rapaport, Yoann Seeleuthner, Atar Lev, Amos J. Simon, Jorge Montoya, Ortal Barel, Julio Gómez-Rodríguez, Julio C. Orrego, Anne-Sophie L’Honneur, Camille Soudée, Jessica Rojas, Alejandra C. Velez, Irini Sereti, Benjamin Terrier, Nancy Marin, Luis F. García, Laurent Abel, Stéphanie Boisson-Dupuis, Joel Reis, Antonio Marinho, Andrea Lisco, Emilia Faria, Christopher C. Goodnow, Julia Vasconcelos, Vivien Béziat, Cindy S. Ma, Raz Somech, Jean-Laurent Casanova, Jacinta Bustamante, Jose Luis Franco, Stuart G. Tangye
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (5): e20231044.
https://doi.org/10.1084/jem.20231044
Published: 01 April 2024
View article titled, Helper T cell immunity in humans with inherited CD4 deficiency
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Includes: Supplementary data
Journal Articles

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

In Special Collection:
Innate Immune Signaling: From Host Defense to Disease Pathogenesis
Paul Bastard, Adrian Gervais, Maki Taniguchi, Liisa Saare, Karita Särekannu, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Lucy Bizien, Takaki Asano, Marina Garcia-Prat, Alba Parra-Martínez, Mélanie Migaud, Miyuki Tsumura, Francesca Conti, Alexandre Belot, Jacques G. Rivière, Tomohiro Morio, Junko Tanaka, Etienne Javouhey, Filomeen Haerynck, Sotirija Duvlis, Tayfun Ozcelik, Sevgi Keles, Yacine Tandjaoui-Lambiotte, Simon Escoda, Maya Husain, Qiang Pan-Hammarström, Lennart Hammarström, Gloria Ahlijah, Anthony Abi Haidar, Camille Soudee, Vincent Arseguel, Hassan Abolhassani, Sabina Sahanic, Ivan Tancevski, Yoko Nukui, Seiichi Hayakawa, George P. Chrousos, Athanasios Michos, Elizabeth-Barbara Tatsi, Filippos Filippatos, Agusti Rodriguez-Palmero, Jesus Troya, Imran Tipu, Isabelle Meyts, Lucie Roussel, Sisse Rye Ostrowski, Laire Schidlowski, Carolina Prando, Antonio Condino-Neto, Nathalie Cheikh, Ahmed A. Bousfiha, Jalila El Bakkouri, COVID Clinicians, GEN-COVID Study Group, COVID Human Genetic Effort, Pärt Peterson, Aurora Pujol, Romain Lévy, Pierre Quartier, Donald C. Vinh, Bertrand Boisson, Vivien Béziat, Shen-Ying Zhang, Alessandro Borghesi, Andrea Pession, Evangelos Andreakos, Nico Marr, Alexios-Fotios A. Mentis, Trine H. Mogensen, Carlos Rodríguez-Gallego, Pere Soler-Palacin, Roger Colobran, Vallo Tillmann, Bénédicte Neven, Sophie Trouillet-Assant, Petter Brodin, Laurent Abel, Emmanuelle Jouanguy, Qian Zhang, Federico Martinón-Torres, Antonio Salas, Alberto Gómez-Carballa, Luis I. Gonzalez-Granado, Kai Kisand, Satoshi Okada, Anne Puel, Aurélie Cobat, Jean-Laurent Casanova
Journal: Journal of Experimental Medicine
J Exp Med (2024) 221 (2): e20231353.
https://doi.org/10.1084/jem.20231353
Published: 04 January 2024
View article titled, Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children
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Journal Articles

A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation

In Special Collection:
Thymus, T Cell Development, and Inborn Errors , Immunology Update Winter 2024
Victor G. Lui, Manfred Hoenig, Berenice Cabrera-Martinez, Ryan M. Baxter, Josselyn E. Garcia-Perez, Olivia Bailey, Atanu Acharya, Karl Lundquist, Jesusa Capera, Paul Matusewicz, Frederike A. Hartl, Marco D’Abramo, Josephine Alba, Eva-Maria Jacobsen, Doris Niewolik, Myriam Lorenz, Ulrich Pannicke, Ansgar S. Schulz, Klaus-Michael Debatin, Wolfgang W. Schamel, Susana Minguet, James C. Gumbart, Michael L. Dustin, John C. Cambier, Klaus Schwarz, Elena W.Y. Hsieh
Journal: Journal of Experimental Medicine
J Exp Med (2023) 221 (1): e20230927.
https://doi.org/10.1084/jem.20230927
Published: 14 November 2023
View article titled, A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation
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Includes: Supplementary data
Journal Articles

Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients

In Special Collection:
Cytokines Collection 2023
Adrian Gervais, Francesca Rovida, Maria Antonietta Avanzini, Stefania Croce, Astrid Marchal, Shih-Ching Lin, Alessandro Ferrari, Christian W. Thorball, Orianne Constant, Tom Le Voyer, Quentin Philippot, Jérémie Rosain, Micol Angelini, Malena Pérez Lorenzo, Lucy Bizien, Cristian Achille, Francesca Trespidi, Elisa Burdino, Irene Cassaniti, Daniele Lilleri, Chiara Fornara, José Camilla Sammartino, Danilo Cereda, Chiara Marrocu, Antonio Piralla, Chiara Valsecchi, Stefano Ricagno, Paola Cogo, Olaf Neth, Inés Marín-Cruz, Monia Pacenti, Alessandro Sinigaglia, Marta Trevisan, Andrea Volpe, Antonio Marzollo, Francesca Conti, Tiziana Lazzarotto, Andrea Pession, Pierluigi Viale, Jacques Fellay, Stefano Ghirardello, Mélodie Aubart, Valeria Ghisetti, Alessandro Aiuti, Emmanuelle Jouanguy, Paul Bastard, Elena Percivalle, Fausto Baldanti, Anne Puel, Margaret R. MacDonald, Charles M. Rice, Giada Rossini, Kristy O. Murray, Yannick Simonin, Anna Nagy, Luisa Barzon, Laurent Abel, Michael S. Diamond, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent Casanova, Alessandro Borghesi
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (9): e20230661.
https://doi.org/10.1084/jem.20230661
Published: 22 June 2023
View article titled, Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in ∼40% of patients
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Journal Articles

Inborn errors of human B cell development, differentiation, and function

Stuart G. Tangye, Tina Nguyen, Elissa K. Deenick, Vanessa L. Bryant, Cindy S. Ma
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (7): e20221105.
https://doi.org/10.1084/jem.20221105
Published: 05 June 2023
View article titled, Inborn errors of human B cell development, differentiation, and function
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Journal Articles

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

In Special Collection:
Autoimmunity: From Novel Mechanisms to Treatments
Kunihiko Moriya, Tomohiro Nakano, Yoshitaka Honda, Miyuki Tsumura, Masato Ogishi, Motoshi Sonoda, Masahiko Nishitani-Isa, Takashi Uchida, Mohamed Hbibi, Yoko Mizoguchi, Masataka Ishimura, Kazushi Izawa, Takaki Asano, Fumihiko Kakuta, Daiki Abukawa, Darawan Rinchai, Peng Zhang, Naotomo Kambe, Aziz Bousfiha, Takahiro Yasumi, Bertrand Boisson, Anne Puel, Jean-Laurent Casanova, Ryuta Nishikomori, Shouichi Ohga, Satoshi Okada, Yoji Sasahara, Shigeo Kure
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (9): e20212276.
https://doi.org/10.1084/jem.20212276
Published: 05 June 2023
View article titled, Human <em>RELA</em> dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity
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Includes: Supplementary data
Journal Articles

TB granuloma: CD30 co-stimulation for CD4+ T cell co-operation

Abigail R. Gress, Tyler D. Bold
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (8): e20230547.
https://doi.org/10.1084/jem.20230547
Published: 09 May 2023
View article titled, TB granuloma: CD30 co-stimulation for CD4<sup>+</sup> T cell co-operation
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Journal Articles

Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2

Tina Nguyen, Anthony Lau, Julia Bier, Kristen C. Cooke, Helen Lenthall, Stephanie Ruiz-Diaz, Danielle T. Avery, Henry Brigden, David Zahra, William A Sewell, Luke Droney, Satoshi Okada, Takaki Asano, Hassan Abolhassani, Zahra Chavoshzadeh, Roshini S. Abraham, Nipunie Rajapakse, Eric W. Klee, Joseph A. Church, Andrew Williams, Melanie Wong, Christoph Burkhart, Gulbu Uzel, David R. Croucher, David E. James, Cindy S. Ma, Robert Brink, Stuart G. Tangye, Elissa K. Deenick
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (6): e20221020.
https://doi.org/10.1084/jem.20221020
Published: 21 March 2023
View article titled, Human <em>PIK3R1</em> mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2
Open the PDF for Human <em>PIK3R1</em> mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2 in another window
Includes: Supplementary data