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1. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Author

Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, and Zhang, Peng

Subjects
Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells
Abstract

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.

Published
2023

2. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.

Author

Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen, Sharapova, Svetlana, Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy, Flanagan, Sarah, Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen, Allenspach, Eric, Romberg, Neil, Deane, Sean, Prince, Benjamin, Rose, Melissa, Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria, OSullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa, Chang Berger, Amy, Briggs, Tracy, Brothers, Shannon, Bundy, Vanessa, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal, Gonzalez-Granado, Luis, Guerrerio, Anthony, Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica, Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj, Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl, Russell, Mark, Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko, Torgerson, Troy, Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart, Cooper, Megan, Milner, Joshua, Forbes Satter, Lisa, Leiding, Jennifer, Vogel, Tiphanie, Santarlas, Valentine, Mhaskar, Rahul, Smith, Madison, Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew, Desai, Mukesh, and Fischer, Ute

Subjects
STAT3, autoimmunity, cytopenia, gain of function, immune dysregulation, immunodeficiency, lymphoproliferation, precision medicine, Child, Humans, Autoimmunity, Cohort Studies, Gain of Function Mutation, Immune System Diseases, Immunologic Deficiency Syndromes, Mutation, STAT3 Transcription Factor, Cell Proliferation, Lymphocytes
Abstract

BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants. METHODS: We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3. RESULTS: Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4-CD8-) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate. CONCLUSION: STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome.

Published
2023

3. Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling

Author

Ogishi, Masato, Kitaoka, Koji, Good-Jacobson, Kim L., Rinchai, Darawan, Zhang, Baihao, Wang, Jun, Gies, Vincent, Rao, Geetha, Nguyen, Tina, Avery, Danielle T., Khan, Taushif, Smithmyer, Megan E., Mackie, Joseph, Yang, Rui, Arias, Andrés Augusto, Asano, Takaki, Ponsin, Khoren, Chaldebas, Matthieu, Zhang, Peng, Peel, Jessica N., Bohlen, Jonathan, Lévy, Romain, Pelham, Simon J., Lei, Wei-Te, Han, Ji Eun, Fagniez, Iris, Chrabieh, Maya, Laine, Candice, Langlais, David, Gruber, Conor, Al Ali, Fatima, Rahman, Mahbuba, Aytekin, Caner, Benson, Basilin, Dufort, Matthew J., Domingo-Vila, Clara, Moriya, Kunihiko, Shlomchik, Mark, Uzel, Gulbu, Gray, Paul E., Suan, Daniel, Preece, Kahn, Chua, Ignatius, Okada, Satoshi, Chikuma, Shunsuke, Kiyonari, Hiroshi, Tree, Timothy I., Bogunovic, Dusan, Gros, Philippe, Marr, Nico, Speake, Cate, Oram, Richard A., Béziat, Vivien, Bustamante, Jacinta, Abel, Laurent, Boisson, Bertrand, Korganow, Anne-Sophie, Ma, Cindy S., Johnson, Matthew B., Chamoto, Kenji, Boisson-Dupuis, Stéphanie, Honjo, Tasuku, Casanova, Jean-Laurent, and Tangye, Stuart G.

Published
2024
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4. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

Author

Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Maglorius Renkilaraj, Majistor Raj Luxman, Ogishi, Masato, Soudée, Camille, Migaud, Mélanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Müller, Gabriele, Keller, Baerbel, Orrego, Julio, Franco Gallego, William Alexander, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Bengi Celik, Jale, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurélien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, and Puel, Anne

Published
2023
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5. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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6. STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation

Author

Masle-Farquhar, Etienne, Jackson, Katherine J.L., Peters, Timothy J., Al-Eryani, Ghamdan, Singh, Mandeep, Payne, Kathryn J., Rao, Geetha, Avery, Danielle T., Apps, Gabrielle, Kingham, Jennifer, Jara, Christopher J., Skvortsova, Ksenia, Swarbrick, Alexander, Ma, Cindy S., Suan, Daniel, Uzel, Gulbu, Chua, Ignatius, Leiding, Jennifer W., Heiskanen, Kaarina, Preece, Kahn, Kainulainen, Leena, O’Sullivan, Michael, Cooper, Megan A., Seppänen, Mikko R.J., Mustjoki, Satu, Brothers, Shannon, Vogel, Tiphanie P., Brink, Robert, Tangye, Stuart G., Reed, Joanne H., and Goodnow, Christopher C.

Published
2022
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7. Standardized testing and written communication improve patient understanding of beta-lactam allergy testing outcomes: A multicenter, prospective study

Author

Loprete, Jacqueline, Katelaris, Constance H., Evans, Louise, Kane, Alisa, McMullan, Brendan, Wainstein, Brynn, Wong, Melanie, Post, Jeffrey, Suan, Daniel, Swaminathan, Sanjay, Richardson, Robyn, Rogers, Jamie, Torda, Adrienne, Campbell, Dianne E., Kelleher, Anthony D., Law, Matthew, Carr, Andrew, and Tong, Winnie W.Y.

Published
2022
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8. 26 Survival and Clinical Outcomes of XLA Patients 55 years or older

Author

Chin, Aaron, primary, Ochs, Hans, additional, Kobayashi, Roger, additional, Bolling, Kristina, additional, Catanzaro, Jason, additional, Fischer, Alain, additional, Gupta, Sudhir, additional, Lea, Edward, additional, Litzman, Jiri, additional, Lin, Ming Wei, additional, Mahlaoui, Nizar, additional, Suan, Daniel, additional, Younger, M. Elizabeth, additional, and Kuo, Caroline, additional

Published
2024
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9. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Vita, Giuseppe, Rizzo, Vincenzo, Russo, Massimo, Mazzeo, Anna, Gentile, Luca, Berk, John L, Brueckner, Caitlin, Lazzari, Victoria, Wiesman, Janice, DeLong, Douglas, Victory, Jennifer, Dalton, James, May, John, Gilmore, Catherine, Attarian, Shahram, Diallo, Saran, Delmont, Emilien, Pouget, Jean, Verschueren, Annie, Grapperon, Aude-Marie, Campana-Salort, Emmanuelle, Conceição, Isabel M, Lopes, Ana, Lamas, Filipa, Neves, Carlos, Castro, Jose, Pereira, Pedro, Castro, Isabel, Franco, Ana, Santos, Miguel Oliveira, de Azevedo Coutinho, Conceição, Falcao de Campos, Catarina, Coelho, Teresa, Hipólito Reis, Antonio, Correia, Nuno, Perez, Javier M, Martins da Silva, Ana, Alves, Cristina, Cardoso, Marcio, Valdrez, Katia, Monte, Julia R, Pessoa, Bernardete, Guimaraes, Nadia, Freitas, Monica, Ramalho, Joana, Ferreira, Natalia, Kuzume, Daisuke, Tard, Celine, Waucquier, Nawal, Rougeaux, Isabelle, Brice, Sylvie, Kasprzyk, Emmanuelle, Elrezzi, Elise, Meguig, Sayah, Hachulla, Eric, Gauvain, Clement, Migaud-Chervy, Maria-Claire, Deplanque, Dominique, Jozefowicz, Elsa, Lebellec, Loic, Adams, David, Balaya-Gouraya, Line, Jehan Lacour, Nathalie, Bournane, Halima, Martin, Nathalie, Elabed, Mongia, Sacko, Niamey, Boubrit, Yasmine, Gaouar, Amina, Rakotondratafika, Fetra, Théaudin-Saliou, Marie, Cauquil-Michon, Cécile, Labeyrie, Celine, Not, Adeline, Al-Salameh, Abdallah, Lecoq, Anne-Lise, Stephant, Maeva, Echaniz-Laguna, Andoni, Becquemont, Laurent, Beaudonnet, Guillemette, Algalarrondo, Vincent, Eliahou, Ludivine, Slama, Michel S, Rousseau, Antoine, Signate, Aissatou, Berthelot, Emeline, Inamo, Jocelyn, Planté-Bordeneuve, Violaine, Vervoitte, Laetitia, Focseneanu, Cecile, Gendre, Thierry, Arrouasse, Raphaele, Ayache, Samar S., Ernande, Laura, Le Corvoisier, Philippe, Salhi, Hayet, Choumert, Ariane, Ehinger, Vincent, Ruiz, Julie, Charlin, Cyril, Megelin, Thomas, Brannagan III, Thomas H, Fayerman, Raisy, Kim, Arreum, Paras, Allan, Gonzalez, Leidy J, Tsang, Steven, Wajnsztajn, Fernanda, Shije, Jeffrey, Ulane, Christina, Kleyman, Inna, Weimer, Louis, Cioroiu, Comana, Lambrianides, Sakis, Abu-Manneh, Rana, Zamba-Papanicolaou, Eleni, Agathangelou, Petros, Leonidou, Eleni, Tada, Satoshi, Fujita, Akemi, Nagai, Masahiro, Ando, Rina, Hosokawa, Yuko, Yamanishi, Yuki, Overcash, J. Scott, Giardino, Elena, Boyer, Leslie, Dang, Lien, Le, An, Nguyen, Tyler, Giang, Lien, Sellers, Peter, Tran, Leyla, Truong, Nghi, Vinas, Maita, Hrkman, Nicole, Miller, Sarah, Nguyen, David, Smith, Ashley, Pu, Helen, Li, Steve, Vuong, Thao, Dioso, Holly, Green, Sinikka, Lee, Kia, Chu, Hanh, Waters, Michael, Coskun, Derya J, Zepeda, Karla A, O'Riordan, William, Obici, Laura, Cortese, Andrea, Lozza, Alessandro, Merlini, Giampaolo, Rosti, Vittorio, Sabatelli, Mario, Bisogni, Giulia, Bernardo, Daniela, Luigetti, Marco, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Nienhuis, Hans, Bulthuis-Kuiper, Janita, Kristen, Arnt V, Gerk, Olga, Ulbricht, Hannah, Taylor, Lenka, Meyle, Eva, Kleinschmidt, Natalia, Meyrath, David, Noe-Schwenn, Simone, Meng, Ulrike, Bauer, Ralf, aus dem Siepen, Fabian, Hein, Selina, Takahashi, Tetsuya, Oshita, Tomohiko, Koujin, Yoko, Neshige, Shuichiro, Nezu, Tomohisa, Segawa, Akiko, Ueno, Hiroki, Morino, Hiroyuki, Campistol, Josep M, Rodas Marin, Lida Maria, Blasco Pelicano, Josep Miquel, Dávila, Lucía Galán, Palacios, Marta, Pytel Cordoba, Vanesa, Guerrero Sola, Antonio, Horga, Alejandro, García Feijoo, Julián, Perez de Isla, Leopoldo, Marques Júnior, Wilson, Moscardini, Mariana, Litcanov, Debora Cristina, Viera Lima, Ana Flavia, Rodrigues, Leonardo, Marques Coutinho, Barbara, Moreira, Carolina Lavigne, Daccach Marques, Vanessa, Munoz Beamud, Francisco, Gragera Martínez, Álvaro, Borrachero, Cristina, Losada López, Inés Asunción, Cisneros Barroso, Eugenia, Rodríguez Rodríguez, Adrián, Sanz, Monica, Rigo Oliver, Elena, González Moreno, Juan, Gamez Martinez, Jose M, Descals, Cristina, Uson, Mercedes, Jose Vega, Francisco, Figuerola, Antoni, Montala, Carles, Waddington-Cruz, Márcia, Dias da Silva, Moises, Gervais de Santa Rosa, Renata, Pinto, Luiz Felipe, Pinto, Marcus Vinicius, Cardoso Berensztejn, Amanda, Barroso, Fabio, Lautre, Andrea, Orellana, Lucas G, González-Duarte Briseño, Maria Alejandra, Cárdenas-Soto, Karla, Jiménez López, Brenda Poled, Pérez-Castañeda, Sandra Lorena, Cantú Brito, Carlos Gerardo, Rivera de la Parra, David, Hernandez Reyes, Jose Pablo, del Mar Saniger Alba, Maria, Criollo Mora, Elia, Parman, Yesim, Rezzan, Kus Jülide, Sahin, Erdi, Serbest, Nail G, Durmus, Hacer, Cakar, Arman, Tugal Tutkun, Nuriye Ilknur, Karamursel, Sacit, Elitok, Ali, Sirin Inan, Nermin G, Altinkurt, Emre, Polydefkis, Michael, Ye, Jing, Allen, Adriane C, Chaudhry, Vinay, Jarrett, Raquel, Bressler, Neil, Burks, Kathleen L, Liu, Qingfeng, Khoshnoodi, Mohammad, Judge, Daniel P, Vista, Geno, Shah, Syed Mahmood, Hamaguchi, Hirotoshi, Oda, Junko, Fukase, Emi, Taniguchi, Ikuko, Oda, Tetsuya, Endo, Hironobu, Shimomura, Masahiro, Katanazaka, Kimitaka, Koto, Shusuke, Nakano, Takahiro, Scheid, Christof, Zueiter, Andreas, Pester, Lars, Walter, Doreen, Özdemir, Betül, Frenzel, Lukas F, Holtick, Udo, Oh, Jeeyoung, Kim, Hee Jin, Shin, Hyun Jin, Choi, Kyomin, Yamashita, Taro, Ueda, Mitsuharu, Masuda, Teruaki, Misumi, Yohei, Ueda, Akihiko, Nakahara, Keiichi, Yorita, Akiko, Tsuruhisa, Seiko, Taniwaki, Takayuki, Harada, Masaya, Moritaka, Taiga, Sakurada, Naonori, Mauricio, Elizabeth A, Baskin, Amber, Dimberg, Elliot, Dispenzieri, Angela, Fonder, Amie, Hobbs, Miriam, Russell, Stephen J, Dyck, Peter, Gonsalves, Wilson, Leung, Nelson, Witzig, Thomas E, Zeldenrust, Steven R, Hwa, Lisa, Kapoor, Prashant, Kumar, Shaji K, Lin, Yi, Lust, John A, Rajkumar, Vincent S, Dingli, David, Gertz, Morie A, Go, Ronald, Hayman, Suzanne R, Dalia, Samir, Carrillo, Esmeralda, Gorevic, Peter, Mason, Garnette, Chao, Chi-Chao, Lee, Ming-Jen, Su, Jen-Jen, Hsieh, Sung-Tsang, Tsai, Li-Kai, Yeh, Shin-Joe, Yang, Chih-Chao, Ajroud-Driss, Senda Ajroud-Driss, Casey, Patricia, Joslin, Benjamin C, Freimer, Miriam, Sankey, Alison, Kenepp, Amanda, Heintzman, Sarah, LoRusso, Samantha, Hokezu, Youichi, Kim, Byoung-Joon, Kim, JuHyeon, Lee, Ga Yeon, Cho, Eun Bin, Jeon, Eun-Seok, Min, Ju-Hong, Seok, Jin Myoung, Lee, Hye Lim, Park, Jae Hong, Sekijima, Yoshiki, Miyazawa, Chinatsu, Kato, Nagaaki, Kishida, Dai, Hineno, Akiyo, Kodaira, Minori, Yoshinaga, Tsuneaki, Miyahara, Teruyoshi, Imai, Akira, Matsumoto, Kazuhiko, Lin, Kon-Ping, Lee, Yi-Chung, Wixner, Jonas, Falk, Malin, Pilebro, Bjorn, Suhr, Ole, Lindqvist, Per, Soderberg, Karin, Pedrosa-Domellöf, Fatima, Anan, Intissar, Nordh, Erik, Tournev, Ivaylo, Zhelyazkova-Glaveeva, Sashka, Cherneva, Zheyna, Sarafov, Staiko, Chamova, Teodora, Cherninkova-Gopina, Sylvia, Schmidt, Hartmut H, Friebel, Frauke, Zibert, Andree, Mihailovic, Natasa, Schubert, Friederike, Vorona, Elena, Lahme, Larissa, Huesing-Kabar, Anna, Schilling, Matthias, Kabar, Iyad, Gillmore, Julian D, Martinez-Naharro, Ana, Chacko, Liza, Cohen, Oliver, Law, Steven, Rezk, Tamer, Lachmann, Helen J, Quan, Dianna, Blume, Brianna, Dixon, Stacy, Low, Soon Chai, Chan, Soo Looi, Lim, He Eng Li, Goh, Khean Jin, Mezei, Michelle M, Kraus, Deborah, Jack, Kristin, Wade, N. Kevin, Lopate, Glenn, Zwijack, Brittany, Florence, Julaine, Sommerville, R. Brian, Stewart, Graeme, Ryder, Julie, Mekhael, Linda, Taylor, Mark, Suan, Daniel, Wells, Karen, Stone, Paula, Itoya, Amenze, Owusu-Sekyere, Mercy, Thai, Desmond, Chahine, Ilonah, Pedrosa, Salve, Do, Thi Hoa (Therese), González-Duarte, Alejandra, Kyriakides, Theodoros, Ajroud-Driss, Senda, Mauricio, Elizabeth, Brannagan, Thomas H, III, Aldinc, Emre, Wang, Jing Jing, White, Matthew T, Vest, John, Berber, Erhan, and Sweetser, Marianne T

Published
2021
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10. Distinguishing heart failure with reduced ejection fraction from heart failure with preserved ejection fraction: A phenomics approach

Author

van Essen, Bart J., primary, Tharshana, Ganash N., additional, Ouwerkerk, Wouter, additional, Yeo, Poh Suan Daniel, additional, Sim, David, additional, Jaufeerally, Fazlur, additional, Ong, Hean Yee, additional, Ling, Lieng Hsi, additional, Soon, Dinna Kar Nee, additional, Lee, Shao Guang Sheldon, additional, Leong, Gerard, additional, Loh, Seet Yoong, additional, San Tan, Ru, additional, Ramachandra, Chrishan J., additional, Hausenloy, Derek J., additional, Liew, Oi Wai, additional, Chong, Jenny, additional, Voors, Adriaan A., additional, Lam, Carolyn S.P., additional, Richards, A. Mark, additional, and Tromp, Jasper, additional

Published
2024
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11. Self-reactive B cells traverse a perfect storm of somatic mutagenesis to cause a virus-induced autoimmune disease

Author

Young, Clara, primary, Singh, Mandeep, additional, Jackson, Katherine JL, additional, Field, Matt A, additional, Peters, Timothy J, additional, Angioletti-Uberti, Stefano, additional, Frenkel, Daan, additional, Ravishankar, Shyamsundar, additional, Gupta, Money, additional, Wang, Jing J, additional, Agapiou, David, additional, Faulks, Megan L, additional, Al-Eryani, Ghamdan, additional, Luciani, Fabio, additional, Gordon, Tom P, additional, Reed, Joanne H, additional, Danta, Mark, additional, Carr, Andrew, additional, Kelleher, Anthony D, additional, Dore, Gregory J, additional, Matthews, Gail, additional, Brink, Robert, additional, Bull, Rowena A, additional, Suan, Daniel, additional, and Goodnow, Christopher C, additional

Published
2024
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12. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Leiding, Jennifer W., primary, Vogel, Tiphanie P., additional, Santarlas, Valentine G.J., additional, Mhaskar, Rahul, additional, Smith, Madison R., additional, Carisey, Alexandre, additional, Vargas-Hernández, Alexander, additional, Silva-Carmona, Manuel, additional, Heeg, Maximilian, additional, Rensing-Ehl, Anne, additional, Neven, Bénédicte, additional, Hadjadj, Jérôme, additional, Hambleton, Sophie, additional, Ronan Leahy, Timothy, additional, Meesilpavikai, Kornvalee, additional, Cunningham-Rundles, Charlotte, additional, Dutmer, Cullen M., additional, Sharapova, Svetlana O., additional, Taskinen, Mervi, additional, Chua, Ignatius, additional, Hague, Rosie, additional, Klemann, Christian, additional, Kostyuchenko, Larysa, additional, Morio, Tomohiro, additional, Thatayatikom, Akaluck, additional, Ozen, Ahmet, additional, Scherbina, Anna, additional, Bauer, Cindy S., additional, Flanagan, Sarah E., additional, Gambineri, Eleonora, additional, Giovannini-Chami, Lisa, additional, Heimall, Jennifer, additional, Sullivan, Kathleen E., additional, Allenspach, Eric, additional, Romberg, Neil, additional, Deane, Sean G., additional, Prince, Benjamin T., additional, Rose, Melissa J., additional, Bohnsack, John, additional, Mousallem, Talal, additional, Jesudas, Rohith, additional, Santos Vilela, Maria Marluce Dos, additional, O’Sullivan, Michael, additional, Pachlopnik Schmid, Jana, additional, Průhová, Štěpánka, additional, Klocperk, Adam, additional, Rees, Matthew, additional, Su, Helen, additional, Bahna, Sami, additional, Baris, Safa, additional, Bartnikas, Lisa M., additional, Chang Berger, Amy, additional, Briggs, Tracy A., additional, Brothers, Shannon, additional, Bundy, Vanessa, additional, Chan, Alice Y., additional, Chandrakasan, Shanmuganathan, additional, Christiansen, Mette, additional, Cole, Theresa, additional, Cook, Matthew C., additional, Desai, Mukesh M., additional, Fischer, Ute, additional, Fulcher, David A., additional, Gallo, Silvanna, additional, Gauthier, Amelie, additional, Gennery, Andrew R., additional, Gonçalo Marques, José, additional, Gottrand, Frédéric, additional, Grimbacher, Bodo, additional, Grunebaum, Eyal, additional, Haapaniemi, Emma, additional, Hämäläinen, Sari, additional, Heiskanen, Kaarina, additional, Heiskanen-Kosma, Tarja, additional, Hoffman, Hal M., additional, Gonzalez-Granado, Luis Ignacio, additional, Guerrerio, Anthony L., additional, Kainulainen, Leena, additional, Kumar, Ashish, additional, Lawrence, Monica G., additional, Levin, Carina, additional, Martelius, Timi, additional, Neth, Olaf, additional, Olbrich, Peter, additional, Palma, Alejandro, additional, Patel, Niraj C., additional, Pozos, Tamara, additional, Preece, Kahn, additional, Lugo Reyes, Saúl Oswaldo, additional, Russell, Mark A., additional, Schejter, Yael, additional, Seroogy, Christine, additional, Sinclair, Jan, additional, Skevofilax, Effie, additional, Suan, Daniel, additional, Suez, Daniel, additional, Szabolcs, Paul, additional, Velasco, Helena, additional, Warnatz, Klaus, additional, Walkovich, Kelly, additional, Worth, Austen, additional, Seppänen, Mikko R.J., additional, Torgerson, Troy R., additional, Sogkas, Georgios, additional, Ehl, Stephan, additional, Tangye, Stuart G., additional, Cooper, Megan A., additional, Milner, Joshua D., additional, Forbes Satter, Lisa R., additional, Aleshkevich, Svetlana, additional, Allende, Luis M., additional, Atkinson, T. Prescott, additional, Atschekzei, Faranaz, additional, Aydemir, Sezin, additional, Aygunes, Utku, additional, Barlogis, Vincent, additional, Baumann, Ulrich, additional, Belko, John, additional, Bezrodnik, Liliana, additional, Biebl, Ariane, additional, Broderick, Lori, additional, Bunin, Nancy J., additional, Caldirola, Maria Soledad, additional, Castelle, Martin, additional, Celmeli, Fatih, additional, Charbonnier, Louis-Marie, additional, Chatila, Talal A., additional, Chellapandian, Deepak, additional, Cokugras, Haluk, additional, Conlon, Niall, additional, Cox, Fionnuala, additional, Crickx, Etienne, additional, Dalgic, Buket, additional, ASH Dalm, Virgil, additional, Danielian, Silvia, additional, Dominguez-Pinilla, Nerea, additional, Dujovny, Tal, additional, Ebbo, Mikael, additional, Eken, Ahmet, additional, Esty, Brittany, additional, Fabre, Alexandre, additional, Fischer, Alain, additional, Hannibal, Mark, additional, Huppert, Laura, additional, Ikeda, Marc D., additional, Jolles, Stephen, additional, Jolly, Kent W., additional, Jones, Neil, additional, Kanariou, Maria, additional, Karakoc-Aydiner, Elif, additional, Karamantziani, Theoni, additional, Kelaidi, Charikleia, additional, Keogan, Mary, additional, Pac Kisaarslan, Ayşenur, additional, Kiykim, Ayca, additional, Kotsonis, Kosmas, additional, Kuzmenko, Natalia, additional, Leroy, Sylvie, additional, Lianou, Dimitra, additional, Longhurst, Hilary, additional, Lorenz, Myriam Ricarda, additional, Maffucci, Patrick, additional, Manson, Ania, additional, Marchal, Sarah, additional, Malphettes, Marion, additional, Marega, Lia Furlaneto, additional, Mauracher, Andrea A., additional, Miller, Holly, additional, Mombourquette, Joy, additional, Morgan, Noel G., additional, Mukhina, Anna, additional, Nathalie, Aladjidi, additional, Nelken, Brigitte, additional, Nolan, David, additional, Norlin, Anna-Carin, additional, Oleastro, Matias, additional, Ozcan, Alper, additional, Pasquet, Marlene, additional, Pegler, José Roberto, additional, Picard, Capucine, additional, Polychronopoulou, Sophia, additional, Quartier, Pierre, additional, Quesada, Juan Francisco, additional, Ramakers, Jan, additional, Randall, Katrina L., additional, Rao, V. Koneti, additional, Remiker, Allison, additional, Resin, Geraldine, additional, Richmond, Peter, additional, Rieux-Laucat, Frederic, additional, Rodina, Yulia, additional, Rohrlich, Pierre, additional, Sachs, Johnathan, additional, Sakovich, Inga, additional, Santarlas, Christopher, additional, Sari, Sinan, additional, Sawicki, Gregory, additional, Schauer, Uwe, additional, Scheffler Mendoza, Selma C., additional, Schvetz, Oksana, additional, Schmidt, Reinhold Ernst, additional, Schwarz, Klaus, additional, Sediva, Anna, additional, Sinclair, Kyle, additional, Slatter, Mary, additional, Sleasman, John, additional, Stergiou, Katerina, additional, Suratannon, Narissara, additional, Tanita, Kay, additional, Thompson, Grace, additional, Travis, Stephen, additional, Trojan, Timothy, additional, Tsinti, Maria, additional, Unal, Ekrem, additional, Urdinez, Luciano, additional, Vazquez-Gomez, Felisa, additional, Villa, Mariana, additional, Weinrich, Michael, additional, Weiss, Mitchell J., additional, Wright, Benjamin, additional, Yilmaz, Ebru, additional, Zachova, Radana, additional, and Zhang, Yu, additional

Published
2023
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13. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G. J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Dos Santos Vilela, Maria Marluce, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, STAT3 GOF Working Group members, Seppänen, Mikko R. J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., Forbes Satter, Lisa R., Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G. J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Dos Santos Vilela, Maria Marluce, O'Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, STAT3 GOF Working Group members, Seppänen, Mikko R. J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Abstract

[Background] In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity., [Objective] This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants., [Methods] We identified 191 patients from 33 countries with 72 unique mutations. Inclusion criteria included symptoms of immune dysregulation and a biochemically confirmed germline heterozygous GOF variant in STAT3., [Results] Overall survival was 88%, median age at onset of symptoms was 2.3 years, and median age at diagnosis was 12 years. Immune dysregulatory features were present in all patients: lymphoproliferation was the most common manifestation (73%); increased frequencies of double-negative (CD4−CD8−) T cells were found in 83% of patients tested. Autoimmune cytopenias were the second most common clinical manifestation (67%), followed by growth delay, enteropathy, skin disease, pulmonary disease, endocrinopathy, arthritis, autoimmune hepatitis, neurologic disease, vasculopathy, renal disease, and malignancy. Infections were reported in 72% of the cohort. A cellular and humoral immunodeficiency was observed in 37% and 51% of patients, respectively. Clinical symptoms dramatically improved in patients treated with JAK inhibitors, while a variety of other immunomodulatory treatment modalities were less efficacious. Thus far, 23 patients have undergone bone marrow transplantation, with a 62% survival rate., [Conclusion] : STAT3 GOF patients present with a wide array of immune-mediated disease including lymphoproliferation, autoimmune cytopenias, and multisystem autoimmunity. Patient care tends to be siloed, without a clear treatment strategy. Thus, early identification and prompt treatment implementation are lifesaving for STAT3 GOF syndrome.

Published
2023

14. Diagnostic Accuracy of the Electrocardiogram for Heart Failure With Reduced or Preserved Ejection Fraction

Author

Tromp, Jasper, primary, van der Meer, Peter, additional, Tay, Wan Ting, additional, Ling, Lieng Hsi, additional, Loh, Seet Yoong, additional, Soon, Dinna, additional, Chin, Calvin, additional, Jaufeerally, Fazlur, additional, Bamadhaj, Sahiddah, additional, Ng, Tze Pin, additional, Lee, Sheldon S.G., additional, Sim, David, additional, Yeo, Poh Suan Daniel, additional, Leong, Gerard Kui Toh, additional, Ong, Hean Yee, additional, Tantoso, Erwin, additional, Eisenhaber, Frank, additional, Richards, A. Mark, additional, and Lam, Carolyn S.P., additional

Published
2023
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15. Impaired thymic AIRE expression underlies autoantibodies against type I IFNs in humans with inborn errors of the alternative NF-kB pathway

Author

Voyer, Tom Le, primary, Gervais, Adrian, additional, Rosain, Jérémie, additional, Parent, Audrey, additional, Cederholm, Axel, additional, Rinchai, Darawan, additional, Bizien, Lucy, additional, Hancioglu, Gonca, additional, Philippot, Quentin, additional, Gueye, Mame Sokhna, additional, Luxman, Majistor Raj, additional, Renkilaraj, Maglorius, additional, Ogishi, Masato, additional, Soudée, Camille, additional, Migaud, Mélanie, additional, Rozenberg, Flore, additional, Momenilandi, Mana, additional, Riller, Quentin, additional, Imberti, Luisa, additional, Delmonte, Ottavia, additional, Müller, Gabriele, additional, Keller, Bärbel, additional, Orrego, Julio, additional, Gallego, William Alexander, additional, Rubin, Tamar, additional, Emiroglu, Melike, additional, Parvaneh, Nima, additional, Eriksson, Daniel, additional, Aranda-Guillen, Maribel, additional, Berrios, David I, additional, Vong, Linda, additional, Katelaris, Connie H, additional, Mustillo, Peter, additional, Rädler, Johannes, additional, Bohlen, Jonathan, additional, Celik, Jale Bengi, additional, Astudillo, Camila, additional, Winter, Sarah, additional, Guichard, Audrey, additional, Béziat, Vivien, additional, Bustamante, Jacinta, additional, Pan-Hammarström, Qiang, additional, Zhang, Yu, additional, Rosen, Lindsey B, additional, Holland, Steve M, additional, Kenney, Heather, additional, Boztuğ, Kaan, additional, Mahlaoui, Nizar, additional, Latour, Sylvain, additional, Abraham, Roshini, additional, Lougaris, Vassilios, additional, Hauck, Fabian, additional, Sediva, Anna, additional, Atschekzei, Faranaz, additional, Poli, M Cecilia, additional, Slatter, Mary A, additional, Palterer, Boaz, additional, Keller, Michael D, additional, Pinzon-Charry, Alberto, additional, Sullivan, Anna, additional, Droney, Luke, additional, Suan, Daniel, additional, Aladjidi, Nathalie, additional, Hie, Miguel, additional, Lazaro, Estibaliz, additional, Franco, Jose, additional, Keles, Sevgi, additional, Malphette, Marion, additional, Pasquet, Marlene, additional, Maccari, Maria Elena, additional, Meinhardt, Andrea, additional, Ikinciogullari, Aydan, additional, Shahrooei, Mohammad, additional, Celmeli, Fatih, additional, Frosk, Patrick, additional, Goodnow, Christopher C, additional, Gray, Paul E, additional, Belot, Alexandre, additional, Kuehn, Hye Sun, additional, Rosenzweig, Sergio D, additional, Licciardi, Francesco, additional, Servettaz, Amélie, additional, Barlogis, Vincent, additional, Guenno, Guillaume Le, additional, Herrmann, Vera-Maria, additional, Kuijpers, Taco, additional, Ducoux, Grégoire, additional, Sarrot-Reynauld, Françoise, additional, Schuetz, Catharina, additional, Cunningham-Rundles, Charlotte, additional, Rieux-Laucat, Frédéric, additional, Tangye, Stuart G, additional, Sobacchi, Cristina, additional, Doffinger, Rainer, additional, Warnatz, Klaus, additional, Grimbacher, Bodo, additional, Fieschi, Claire, additional, Berteloot, Laureline, additional, Bryant, Vanessa, additional, Assant, Sophie Trouillet, additional, Notarangelo, Luigi D, additional, Su, Helen, additional, Neven, Benedicte, additional, Abel, Laurent, additional, Zhang, Qian, additional, Boisson, Bertrand, additional, Cobat, Aurélie, additional, Jouanguy, Emmanuelle, additional, Kampe, Olle, additional, Bastard, Paul, additional, Roifman, Chaim, additional, Landegren, Nils, additional, Anderson, Mark S, additional, Casanova, Jean-Laurent, additional, and Puel, Anne, additional

Published
2023
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16. Diagnostic Accuracy of the Electrocardiogram for Heart Failure With Reduced or Preserved Ejection Fraction

Author

Jasper Tromp, Peter van der Meer, Wan Ting Tay, Lieng Hsi Ling, Seet Yoong Loh, Dinna Soon, Calvin Chin, Fazlur Jaufeerally, Sahiddah Bamadhaj, Tze Pin Ng, Sheldon S.G. Lee, David Sim, Poh Suan Daniel Yeo, Gerard Kui Toh Leong, Hean Yee Ong, Erwin Tantoso, Frank Eisenhaber, A. Mark Richards, and Carolyn S.P. Lam

Subjects
Cardiology and Cardiovascular Medicine
Published
2023
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17. STAT3gain-of-function mutations connect leukemia with autoimmune disease by pathological dysregulation of NKG2DhiCD8 killer T cells

Author

Masle-Farquhar, Etienne, primary, Jackson, Katherine J.L., additional, Peters, Timothy J., additional, Al-Eryani, Ghamdan, additional, Singh, Mandeep, additional, Payne, Kathryn J., additional, Rao, Geetha, additional, Apps, Gabrielle, additional, Kingham, Jennifer, additional, Jara, Christopher J., additional, Skvortsova, Ksenia, additional, Swarbrick, Alexander, additional, Ma, Cindy S., additional, Suan, Daniel, additional, Uzel, Gulbu, additional, Chua, Ignatius, additional, Leiding, Jennifer W., additional, Heiskanen, Kaarina, additional, Preece, Kahn, additional, Kainulainen, Leena, additional, O’Sullivan, Michael, additional, Cooper, Megan A., additional, Seppänen, Mikko R.J., additional, Mustjoki, Satu, additional, Brothers, Shannon, additional, Vogel, Tiphanie P., additional, Brink, Robert, additional, Tangye, Stuart G., additional, Reed, Joanne H., additional, and Goodnow, Christopher C., additional

Published
2022
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18. Overactive STAT3 drives accumulation of disease-associated CD21lowB cells

Author

Masle-Farquhar, Etienne, primary, Peters, Timothy, additional, Jackson, Katherine JL, additional, Singh, Mandeep, additional, Ma, Cindy S, additional, Suan, Daniel, additional, Uzel, Gulbu, additional, Chua, Ignatius, additional, Leiding, Jennifer W, additional, Heiskanen, Kaarina, additional, Preece, Kahn, additional, Kainulainen, Leena, additional, O’Sullivan, Michael, additional, Cooper, Megan A, additional, Seppänen, Mikko RJ, additional, Mustjoki, Satu, additional, Brothers, Shannon, additional, Vogel, Tiphanie P, additional, Brink, Robert, additional, Tangye, Stuart G, additional, Reed, Joanne H, additional, and Goodnow, Christopher C, additional

Published
2021
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19. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study

Author

Adams, David, primary, Polydefkis, Michael, additional, González-Duarte, Alejandra, additional, Wixner, Jonas, additional, Kristen, Arnt V, additional, Schmidt, Hartmut H, additional, Berk, John L, additional, Losada López, Inés Asunción, additional, Dispenzieri, Angela, additional, Quan, Dianna, additional, Conceição, Isabel M, additional, Slama, Michel S, additional, Gillmore, Julian D, additional, Kyriakides, Theodoros, additional, Ajroud-Driss, Senda, additional, Waddington-Cruz, Márcia, additional, Mezei, Michelle M, additional, Planté-Bordeneuve, Violaine, additional, Attarian, Shahram, additional, Mauricio, Elizabeth, additional, Brannagan, Thomas H, additional, Ueda, Mitsuharu, additional, Aldinc, Emre, additional, Wang, Jing Jing, additional, White, Matthew T, additional, Vest, John, additional, Berber, Erhan, additional, Sweetser, Marianne T, additional, Coelho, Teresa, additional, Vita, Giuseppe, additional, Rizzo, Vincenzo, additional, Russo, Massimo, additional, Mazzeo, Anna, additional, Gentile, Luca, additional, Brueckner, Caitlin, additional, Lazzari, Victoria, additional, Wiesman, Janice, additional, DeLong, Douglas, additional, Victory, Jennifer, additional, Dalton, James, additional, May, John, additional, Gilmore, Catherine, additional, Diallo, Saran, additional, Delmont, Emilien, additional, Pouget, Jean, additional, Verschueren, Annie, additional, Grapperon, Aude-Marie, additional, Campana-Salort, Emmanuelle, additional, Lopes, Ana, additional, Lamas, Filipa, additional, Neves, Carlos, additional, Castro, Jose, additional, Pereira, Pedro, additional, Castro, Isabel, additional, Franco, Ana, additional, Santos, Miguel Oliveira, additional, de Azevedo Coutinho, Conceição, additional, Falcao de Campos, Catarina, additional, Hipólito Reis, Antonio, additional, Correia, Nuno, additional, Perez, Javier M, additional, Martins da Silva, Ana, additional, Alves, Cristina, additional, Cardoso, Marcio, additional, Valdrez, Katia, additional, Monte, Julia R, additional, Pessoa, Bernardete, additional, Guimaraes, Nadia, additional, Freitas, Monica, additional, Ramalho, Joana, additional, Ferreira, Natalia, additional, Kuzume, Daisuke, additional, Tard, Celine, additional, Waucquier, Nawal, additional, Rougeaux, Isabelle, additional, Brice, Sylvie, additional, Kasprzyk, Emmanuelle, additional, Elrezzi, Elise, additional, Meguig, Sayah, additional, Hachulla, Eric, additional, Gauvain, Clement, additional, Migaud-Chervy, Maria-Claire, additional, Deplanque, Dominique, additional, Jozefowicz, Elsa, additional, Lebellec, Loic, additional, Adams, David, additional, Balaya-Gouraya, Line, additional, Jehan Lacour, Nathalie, additional, Bournane, Halima, additional, Martin, Nathalie, additional, Elabed, Mongia, additional, Sacko, Niamey, additional, Boubrit, Yasmine, additional, Gaouar, Amina, additional, Rakotondratafika, Fetra, additional, Théaudin-Saliou, Marie, additional, Cauquil-Michon, Cécile, additional, Labeyrie, Celine, additional, Not, Adeline, additional, Al-Salameh, Abdallah, additional, Lecoq, Anne-Lise, additional, Stephant, Maeva, additional, Echaniz-Laguna, Andoni, additional, Becquemont, Laurent, additional, Beaudonnet, Guillemette, additional, Algalarrondo, Vincent, additional, Eliahou, Ludivine, additional, Rousseau, Antoine, additional, Signate, Aissatou, additional, Berthelot, Emeline, additional, Inamo, Jocelyn, additional, Vervoitte, Laetitia, additional, Focseneanu, Cecile, additional, Gendre, Thierry, additional, Arrouasse, Raphaele, additional, Ayache, Samar S., additional, Ernande, Laura, additional, Le Corvoisier, Philippe, additional, Salhi, Hayet, additional, Choumert, Ariane, additional, Ehinger, Vincent, additional, Ruiz, Julie, additional, Charlin, Cyril, additional, Megelin, Thomas, additional, Brannagan III, Thomas H, additional, Fayerman, Raisy, additional, Kim, Arreum, additional, Paras, Allan, additional, Gonzalez, Leidy J, additional, Tsang, Steven, additional, Wajnsztajn, Fernanda, additional, Shije, Jeffrey, additional, Ulane, Christina, additional, Kleyman, Inna, additional, Weimer, Louis, additional, Cioroiu, Comana, additional, Lambrianides, Sakis, additional, Abu-Manneh, Rana, additional, Zamba-Papanicolaou, Eleni, additional, Agathangelou, Petros, additional, Leonidou, Eleni, additional, Tada, Satoshi, additional, Fujita, Akemi, additional, Nagai, Masahiro, additional, Ando, Rina, additional, Hosokawa, Yuko, additional, Yamanishi, Yuki, additional, Overcash, J. Scott, additional, Giardino, Elena, additional, Boyer, Leslie, additional, Dang, Lien, additional, Le, An, additional, Nguyen, Tyler, additional, Giang, Lien, additional, Sellers, Peter, additional, Tran, Leyla, additional, Truong, Nghi, additional, Vinas, Maita, additional, Hrkman, Nicole, additional, Miller, Sarah, additional, Nguyen, David, additional, Smith, Ashley, additional, Pu, Helen, additional, Li, Steve, additional, Vuong, Thao, additional, Dioso, Holly, additional, Green, Sinikka, additional, Lee, Kia, additional, Chu, Hanh, additional, Waters, Michael, additional, Coskun, Derya J, additional, Zepeda, Karla A, additional, O'Riordan, William, additional, Obici, Laura, additional, Cortese, Andrea, additional, Lozza, Alessandro, additional, Merlini, Giampaolo, additional, Rosti, Vittorio, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Bernardo, Daniela, additional, Luigetti, Marco, additional, Di Paolantonio, Andrea, additional, Guglielmino, Valeria, additional, Romano, Angela, additional, Nienhuis, Hans, additional, Bulthuis-Kuiper, Janita, additional, Gerk, Olga, additional, Ulbricht, Hannah, additional, Taylor, Lenka, additional, Meyle, Eva, additional, Kleinschmidt, Natalia, additional, Meyrath, David, additional, Noe-Schwenn, Simone, additional, Meng, Ulrike, additional, Bauer, Ralf, additional, aus dem Siepen, Fabian, additional, Hein, Selina, additional, Takahashi, Tetsuya, additional, Oshita, Tomohiko, additional, Koujin, Yoko, additional, Neshige, Shuichiro, additional, Nezu, Tomohisa, additional, Segawa, Akiko, additional, Ueno, Hiroki, additional, Morino, Hiroyuki, additional, Campistol, Josep M, additional, Rodas Marin, Lida Maria, additional, Blasco Pelicano, Josep Miquel, additional, Dávila, Lucía Galán, additional, Palacios, Marta, additional, Pytel Cordoba, Vanesa, additional, Guerrero Sola, Antonio, additional, Horga, Alejandro, additional, García Feijoo, Julián, additional, Perez de Isla, Leopoldo, additional, Marques Júnior, Wilson, additional, Moscardini, Mariana, additional, Litcanov, Debora Cristina, additional, Viera Lima, Ana Flavia, additional, Rodrigues, Leonardo, additional, Marques Coutinho, Barbara, additional, Moreira, Carolina Lavigne, additional, Daccach Marques, Vanessa, additional, Munoz Beamud, Francisco, additional, Gragera Martínez, Álvaro, additional, Borrachero, Cristina, additional, Cisneros Barroso, Eugenia, additional, Rodríguez Rodríguez, Adrián, additional, Sanz, Monica, additional, Rigo Oliver, Elena, additional, González Moreno, Juan, additional, Gamez Martinez, Jose M, additional, Descals, Cristina, additional, Uson, Mercedes, additional, Jose Vega, Francisco, additional, Figuerola, Antoni, additional, Montala, Carles, additional, Dias da Silva, Moises, additional, Gervais de Santa Rosa, Renata, additional, Pinto, Luiz Felipe, additional, Pinto, Marcus Vinicius, additional, Cardoso Berensztejn, Amanda, additional, Barroso, Fabio, additional, Lautre, Andrea, additional, Orellana, Lucas G, additional, González-Duarte Briseño, Maria Alejandra, additional, Cárdenas-Soto, Karla, additional, Jiménez López, Brenda Poled, additional, Pérez-Castañeda, Sandra Lorena, additional, Cantú Brito, Carlos Gerardo, additional, Rivera de la Parra, David, additional, Hernandez Reyes, Jose Pablo, additional, del Mar Saniger Alba, Maria, additional, Criollo Mora, Elia, additional, Parman, Yesim, additional, Rezzan, Kus Jülide, additional, Sahin, Erdi, additional, Serbest, Nail G, additional, Durmus, Hacer, additional, Cakar, Arman, additional, Tugal Tutkun, Nuriye Ilknur, additional, Karamursel, Sacit, additional, Elitok, Ali, additional, Sirin Inan, Nermin G, additional, Altinkurt, Emre, additional, Ye, Jing, additional, Allen, Adriane C, additional, Chaudhry, Vinay, additional, Jarrett, Raquel, additional, Bressler, Neil, additional, Burks, Kathleen L, additional, Liu, Qingfeng, additional, Khoshnoodi, Mohammad, additional, Judge, Daniel P, additional, Vista, Geno, additional, Shah, Syed Mahmood, additional, Hamaguchi, Hirotoshi, additional, Oda, Junko, additional, Fukase, Emi, additional, Taniguchi, Ikuko, additional, Oda, Tetsuya, additional, Endo, Hironobu, additional, Shimomura, Masahiro, additional, Katanazaka, Kimitaka, additional, Koto, Shusuke, additional, Nakano, Takahiro, additional, Scheid, Christof, additional, Zueiter, Andreas, additional, Pester, Lars, additional, Walter, Doreen, additional, Özdemir, Betül, additional, Frenzel, Lukas F, additional, Holtick, Udo, additional, Oh, Jeeyoung, additional, Kim, Hee Jin, additional, Shin, Hyun Jin, additional, Choi, Kyomin, additional, Yamashita, Taro, additional, Masuda, Teruaki, additional, Misumi, Yohei, additional, Ueda, Akihiko, additional, Nakahara, Keiichi, additional, Yorita, Akiko, additional, Tsuruhisa, Seiko, additional, Taniwaki, Takayuki, additional, Harada, Masaya, additional, Moritaka, Taiga, additional, Sakurada, Naonori, additional, Mauricio, Elizabeth A, additional, Baskin, Amber, additional, Dimberg, Elliot, additional, Fonder, Amie, additional, Hobbs, Miriam, additional, Russell, Stephen J, additional, Dyck, Peter, additional, Gonsalves, Wilson, additional, Leung, Nelson, additional, Witzig, Thomas E, additional, Zeldenrust, Steven R, additional, Hwa, Lisa, additional, Kapoor, Prashant, additional, Kumar, Shaji K, additional, Lin, Yi, additional, Lust, John A, additional, Rajkumar, Vincent S, additional, Dingli, David, additional, Gertz, Morie A, additional, Go, Ronald, additional, Hayman, Suzanne R, additional, Dalia, Samir, additional, Carrillo, Esmeralda, additional, Gorevic, Peter, additional, Mason, Garnette, additional, Chao, Chi-Chao, additional, Lee, Ming-Jen, additional, Su, Jen-Jen, additional, Hsieh, Sung-Tsang, additional, Tsai, Li-Kai, additional, Yeh, Shin-Joe, additional, Yang, Chih-Chao, additional, Ajroud-Driss, Senda Ajroud-Driss, additional, Casey, Patricia, additional, Joslin, Benjamin C, additional, Freimer, Miriam, additional, Sankey, Alison, additional, Kenepp, Amanda, additional, Heintzman, Sarah, additional, LoRusso, Samantha, additional, Hokezu, Youichi, additional, Kim, Byoung-Joon, additional, Kim, JuHyeon, additional, Lee, Ga Yeon, additional, Cho, Eun Bin, additional, Jeon, Eun-Seok, additional, Min, Ju-Hong, additional, Seok, Jin Myoung, additional, Lee, Hye Lim, additional, Park, Jae Hong, additional, Sekijima, Yoshiki, additional, Miyazawa, Chinatsu, additional, Kato, Nagaaki, additional, Kishida, Dai, additional, Hineno, Akiyo, additional, Kodaira, Minori, additional, Yoshinaga, Tsuneaki, additional, Miyahara, Teruyoshi, additional, Imai, Akira, additional, Matsumoto, Kazuhiko, additional, Lin, Kon-Ping, additional, Lee, Yi-Chung, additional, Falk, Malin, additional, Pilebro, Bjorn, additional, Suhr, Ole, additional, Lindqvist, Per, additional, Soderberg, Karin, additional, Pedrosa-Domellöf, Fatima, additional, Anan, Intissar, additional, Nordh, Erik, additional, Tournev, Ivaylo, additional, Zhelyazkova-Glaveeva, Sashka, additional, Cherneva, Zheyna, additional, Sarafov, Staiko, additional, Chamova, Teodora, additional, Cherninkova-Gopina, Sylvia, additional, Friebel, Frauke, additional, Zibert, Andree, additional, Mihailovic, Natasa, additional, Schubert, Friederike, additional, Vorona, Elena, additional, Lahme, Larissa, additional, Huesing-Kabar, Anna, additional, Schilling, Matthias, additional, Kabar, Iyad, additional, Martinez-Naharro, Ana, additional, Chacko, Liza, additional, Cohen, Oliver, additional, Law, Steven, additional, Rezk, Tamer, additional, Lachmann, Helen J, additional, Blume, Brianna, additional, Dixon, Stacy, additional, Low, Soon Chai, additional, Chan, Soo Looi, additional, Lim, He Eng Li, additional, Goh, Khean Jin, additional, Kraus, Deborah, additional, Jack, Kristin, additional, Wade, N. Kevin, additional, Lopate, Glenn, additional, Zwijack, Brittany, additional, Florence, Julaine, additional, Sommerville, R. Brian, additional, Stewart, Graeme, additional, Ryder, Julie, additional, Mekhael, Linda, additional, Taylor, Mark, additional, Suan, Daniel, additional, Wells, Karen, additional, Stone, Paula, additional, Itoya, Amenze, additional, Owusu-Sekyere, Mercy, additional, Thai, Desmond, additional, Chahine, Ilonah, additional, Pedrosa, Salve, additional, and Do, Thi Hoa (Therese), additional

Published
2021
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20. Overactive STAT3 Drives Accumulation of Disease-Associated CD21 low B Cells

Author

Masle-Farquhar, Etienne, primary, Peters, Timothy J., additional, Jackson, Katherine JL, additional, Singh, Mandeep, additional, Ma, Cindy S., additional, Suan, Daniel, additional, Uzel, Gulbu, additional, Chua, Ignatius, additional, Leiding, Jennifer W., additional, Heiskanen, Kaarina, additional, Preece, Kahn, additional, Kainulainen, Leena, additional, O’Sullivan, Michael, additional, Cooper, Megan A., additional, Seppänen, Mikko RJ, additional, Mustjoki, Satu, additional, Brothers, Shannon, additional, Vogel, Tiphanie P., additional, Brink, Robert, additional, Tangye, Stuart G., additional, Reed, Joanne H., additional, and Goodnow, Christopher C., additional

Published
2021
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22. Inborn errors of immunity reveal the molecular requirements for the generation and maintenance of human IL-9 expressing cells.

Author

Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, and Ma CS

Abstract

Background: CD4 + T cells play essential roles in adaptive immunity. Distinct CD4 + T cell subsets - Th1, Th2, Th17, Th22, T follicular helper and regulatory T cells - have been identified and their contributions to host defence and immune regulation are increasingly well-defined. IL-9 producing Th9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity. However, key requirements for generating human Th9 cells remain incompletely defined., Objective: Define signalling pathways that regulate IL-9 production by human CD4 + T cells., Methods: Human naive and memory CD4 + T cells were cultured under different conditions and the molecular mechanisms regulating IL-9 induction were determined by assessing the ability of CD4 + T cells from a broad range of patients (n=92) with pathogenic variants in key immune genes (n=21) to differentiate into IL-9 + cells., Results: We identified two culture conditions that yielded IL-9-expressing cells from naïve CD4 + T cells, and amplified IL-9 production by in vivo-generated memory CD4 + T cells: TGFβ plus IL-4 (i.e. Th9 polarising condition), and the combination of IL-21, IL-23, IL-6, IL-1β and TGFβ (i.e. Th17 polarising condition). Combining these conditions had a synergistic effect in generating IL-9 + CD4 + T cells. IL-9 induction required STAT3-activating cytokines as well as intact signalling via the TCR and STAT5. Importantly, IL-9 induction was restrained by IFNγ/STAT1 and IL-10., Conclusions: Our findings revealed critical molecules involved in inducing/restraining IL-9 production by human CD4 + T cells, thereby identifying pathways that could be targeted to modulate IL-9 in health and disease., (Copyright © 2024. Published by Elsevier Inc.)

Published
2024
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