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Current genetic landscape in common variable immune deficiency
Abolhassani, Hassan, Hammarström, Lennart, Cunningham-Rundles, Charlotte
Published in Blood (27.02.2020)
Published in Blood (27.02.2020)
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher
Published in Journal of allergy and clinical immunology (01.10.2018)
Published in Journal of allergy and clinical immunology (01.10.2018)
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Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae
Tuovinen, Elina A., Kuismin, Outi, Soikkonen, Leila, Martelius, Timi, Kaustio, Meri, Hämäläinen, Sari, Viskari, Hanna, Syrjänen, Jaana, Wartiovaara-Kautto, Ulla, Eklund, Kari K., Saarela, Janna, Varjosalo, Markku, Kere, Juha, Hautala, Timo, Seppänen, Mikko R.J.
Published in Clinical immunology (Orlando, Fla.) (01.01.2023)
Published in Clinical immunology (Orlando, Fla.) (01.01.2023)
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IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammation
Udemgba, Chioma, Pillay, Bethany, Shafer, Samantha, Alberstadt, Angelika, Abers, Michael, Gilliaux, Olivier, Chen, Karin, Rae, William, Hanitsch, Leif, Von Bernuth, Horst, Neves, Joao Farela, Raje, Nikita, Moens, Leen, van Hagen, P. Martin, Bergerson, Jenna, Hartog, Nicholas, Niehues, Tim, Dückers, Gregor, Falcone, Emilia, Keller, Michael, Hsu, Amy, Meyts, Isabelle, Holland, Steven M.
Published in Journal of allergy and clinical immunology (01.06.2025)
Published in Journal of allergy and clinical immunology (01.06.2025)
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Monogenic Common Variable Immunodeficiency (Mo‐CVID) Score for Optimizing the Genetic Diagnosis in Pediatric CVID Cohort
Barbati, Federica, Lodi, Lorenzo, Boscia, Silvia, Cortimiglia, Martina, Calistri, Elisa, Quaranta, Francesca, Maggi, Laura, Mazzoni, Alessio, Palterer, Boaz, Annunziato, Francesco, Azzari, Chiara, Ricci, Silvia
Published in European journal of immunology (01.03.2025)
Published in European journal of immunology (01.03.2025)
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Follicular helper T cell signature of replicative exhaustion, apoptosis, and senescence in common variable immunodeficiency
Milardi, Giulia, Di Lorenzo, Biagio, Gerosa, Jolanda, Barzaghi, Federica, Di Matteo, Gigliola, Omrani, Maryam, Jofra, Tatiana, Merelli, Ivan, Barcella, Matteo, Filippini, Matteo, Conti, Anastasia, Ferrua, Francesca, Pozzo Giuffrida, Francesco, Dionisio, Francesca, Rovere‐Querini, Patrizia, Marktel, Sarah, Assanelli, Andrea, Piemontese, Simona, Brigida, Immacolata, Zoccolillo, Matteo, Cirillo, Emilia, Giardino, Giuliana, Danieli, Maria Giovanna, Specchia, Fernando, Pacillo, Lucia, Di Cesare, Silvia, Giancotta, Carmela, Romano, Francesca, Matarese, Alessandro, Chetta, Alfredo Antonio, Trimarchi, Matteo, Laurenzi, Andrea, De Pellegrin, Maurizio, Darin, Silvia, Montin, Davide, Marinoni, Maddalena, Dellepiane, Rosa Maria, Sordi, Valeria, Lougaris, Vassilios, Vacca, Angelo, Melzi, Raffaella, Nano, Rita, Azzari, Chiara, Bongiovanni, Lucia, Pignata, Claudio, Cancrini, Caterina, Plebani, Alessandro, Piemonti, Lorenzo, Petrovas, Constantinos, Di Micco, Raffaella, Ponzoni, Maurilio, Aiuti, Alessandro, Cicalese, Maria Pia, Fousteri, Georgia
Published in European journal of immunology (01.07.2022)
Published in European journal of immunology (01.07.2022)
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CVID-associated TACI mutations affect autoreactive B cell selection and activation
Romberg, Neil, Chamberlain, Nicolas, Saadoun, David, Gentile, Maurizio, Kinnunen, Tuure, Ng, Yen Shing, Virdee, Manmeet, Menard, Laurence, Cantaert, Tineke, Morbach, Henner, Rachid, Rima, Martinez-Pomar, Natalia, Matamoros, Nuria, Geha, Raif, Grimbacher, Bodo, Cerutti, Andrea, Cunningham-Rundles, Charlotte, Meffre, Eric
Published in The Journal of clinical investigation (01.10.2013)
Published in The Journal of clinical investigation (01.10.2013)
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IgH sequences in common variable immune deficiency reveal altered B cell development and selection
Roskin, Krishna M, Simchoni, Noa, Liu, Yi, Lee, Ji-Yeun, Seo, Katie, Hoh, Ramona A, Pham, Tho, Park, Joon H, Furman, David, Dekker, Cornelia L, Davis, Mark M, James, Judith A, Nadeau, Kari C, Cunningham-Rundles, Charlotte, Boyd, Scott D
Published in Science translational medicine (26.08.2015)
Published in Science translational medicine (26.08.2015)
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Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency
Salzer, Elisabeth, Kansu, Aydan, Sic, Heiko, Májek, Peter, Ikincioğullari, Aydan, Dogu, Figen E., Prengemann, Nina Kathrin, Santos-Valente, Elisangela, Pickl, Winfried F., Bilic, Ivan, Ban, Sol A, Kuloğlu, Zarife, Demir, Arzu Meltem, Ensari, Arzu, Colinge, Jacques, Rizzi, Marta, Eibel, Hermann, Boztug, Kaan
Published in Journal of allergy and clinical immunology (01.06.2014)
Published in Journal of allergy and clinical immunology (01.06.2014)
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Mutation in IRF2BP2 is responsible for a familial form of common variable immunodeficiency disorder
Keller, Michael D., Pandey, Rahul, Li, Dong, Glessner, Joseph, Tian, Lifeng, Henrickson, Sarah E., Chinn, Ivan K., Monaco-Shawver, Linda, Heimall, Jennifer, Hou, Cuiping, Otieno, Frederick G., Jyonouchi, Soma, Calabrese, Leonard, van Montfrans, Joris, Orange, Jordan S., Hakonarson, Hakon
Published in Journal of allergy and clinical immunology (01.08.2016)
Published in Journal of allergy and clinical immunology (01.08.2016)
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Genome-wide association identifies diverse causes of common variable immunodeficiency
Orange, Jordan S., Glessner, Joseph T., Resnick, Elena, Sullivan, Kathleen E., Lucas, Mary, Ferry, Berne, Kim, Cecilia E., Hou, Cuiping, Wang, Fengxiang, Chiavacci, Rosetta, Kugathasan, Subra, Sleasman, John W., Baldassano, Robert, Perez, Elena E., Chapel, Helen, Cunningham-Rundles, Charlotte, Hakonarson, Hakon
Published in Journal of allergy and clinical immunology (01.06.2011)
Published in Journal of allergy and clinical immunology (01.06.2011)
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TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes
Martinez-Gallo, Monica, Radigan, Lin, Almejún, María Belén, Martínez-Pomar, Natalia, Matamoros, Núria, Cunningham-Rundles, Charlotte
Published in Journal of allergy and clinical immunology (01.02.2013)
Published in Journal of allergy and clinical immunology (01.02.2013)
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TACI is mutant in common variable immunodeficiency and IgA deficiency
Castigli, Emanuela, Wilson, Stephen A, Garibyan, Lilit, Rachid, Rima, Bonilla, Francisco, Schneider, Lynda, Geha, Raif S
Published in Nature genetics (01.08.2005)
Published in Nature genetics (01.08.2005)
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Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches
Li, Jin, Wei, Zhi, Li, Yun R., Maggadottir, S. Melkorka, Chang, Xiao, Desai, Akshatha, Hakonarson, Hakon
Published in Biochimica et biophysica acta (01.11.2016)
Published in Biochimica et biophysica acta (01.11.2016)
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Sphingosine-1-phosphate receptors control B-cell migration through signaling components associated with primary immunodeficiencies, chronic lymphocytic leukemia, and multiple sclerosis
Sic, Heiko, Kraus, Helene, Madl, Josef, Flittner, Karl-Andreas, von Münchow, Audrey Lilly, Pieper, Kathrin, Rizzi, Marta, Kienzler, Anne-Kathrin, Ayata, Korcan, Rauer, Sebastian, Kleuser, Burkhard, Salzer, Ulrich, Burger, Meike, Zirlik, Katja, Lougaris, Vassilios, Plebani, Alessandro, Römer, Winfried, Loeffler, Christoph, Scaramuzza, Samantha, Villa, Anna, Noguchi, Emiko, Grimbacher, Bodo, Eibel, Hermann
Published in Journal of allergy and clinical immunology (01.08.2014)
Published in Journal of allergy and clinical immunology (01.08.2014)
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Interferon Signature in the Blood in Inflammatory Common Variable Immune Deficiency
Park, Joon, Munagala, Indira, Xu, Hui, Blankenship, Derek, Maffucci, Patrick, Chaussabel, Damien, Banchereau, Jacques, Pascual, Virginia, Cunningham-Rundles, Charlotte
Published in PloS one (17.09.2013)
Published in PloS one (17.09.2013)
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Clonal and constricted T cell repertoire in Common Variable Immune Deficiency
Ramesh, Manish, Hamm, David, Simchoni, Noa, Cunningham-Rundles, Charlotte
Published in Clinical immunology (Orlando, Fla.) (01.05.2017)
Published in Clinical immunology (Orlando, Fla.) (01.05.2017)
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Regulatory T cell dysfunction in subjects with common variable immunodeficiency complicated by autoimmune disease
Yu, Grace P., Chiang, David, Song, Steven J., Hoyte, Elisabeth G., Huang, Jennifer, Vanishsarn, Christopher, Nadeau, Kari C.
Published in Clinical immunology (Orlando, Fla.) (01.05.2009)
Published in Clinical immunology (Orlando, Fla.) (01.05.2009)
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Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: Clinical and immunologic outcomes in heterozygotes
Zhang, Li, Radigan, Lin, Salzer, Ulrich, Behrens, Timothy W., Grimbacher, Bodo, Diaz, George, Bussel, James, Cunningham-Rundles, Charlotte
Published in Journal of allergy and clinical immunology (01.11.2007)
Published in Journal of allergy and clinical immunology (01.11.2007)
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