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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
Charbonnier, Louis-Marie, Janssen, Erin, Chou, Janet, Ohsumi, Toshiro K., Keles, Sevgi, Hsu, Joyce T., Massaad, Michel J., Garcia-Lloret, Maria, Hanna-Wakim, Rima, Dbaibo, Ghassan, Alangari, Abdullah A., Alsultan, Abdulrahman, Al-Zahrani, Daifulah, Geha, Raif S., Chatila, Talal A.
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity
Gambineri, Eleonora, Perroni, Lucia, Passerini, Laura, Bianchi, Lucia, Doglioni, Claudio, Meschi, Franco, Bonfanti, Riccardo, Sznajer, Yves, Tommasini, Alberto, Lawitschka, Anita, Junker, Anne, Dunstheimer, Desiree, Heidemann, Peter H., Cazzola, Giantonio, Cipolli, Marco, Friedrich, Wilhelm, Janic, Dragana, Azzi, Nadira, Richmond, Erick, Vignola, Silvia, Barabino, Arrigo, Chiumello, Giuseppe, Azzari, Chiara, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.12.2008)
Published in Journal of allergy and clinical immunology (01.12.2008)
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FOXP3 mutations causing early‐onset insulin‐requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome
Hwang, Jessica L, Park, Soo‐Young, Ye, Honggang, Sanyoura, May, Pastore, Ashley N, Carmody, David, del Gaudio, Daniela, Wilson, Janna F, Hanis, Craig L, Liu, Xiaoming, Atzmon, Gil, Glaser, Benjamin, Philipson, Louis H, Greeley, Siri Atma W
Published in Pediatric diabetes (01.05.2018)
Published in Pediatric diabetes (01.05.2018)
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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations inLRBA
Charbonnier, Louis-Marie, Janssen, Erin, Chou, Janet, Ohsumi, Toshiro K, Keles, Sevgi, Hsu, Joyce T, Massaad, Michel J, Garcia-Lloret, Maria, Hanna-Wakim, Rima, Dbaibo, Ghassan, Alangari, Abdullah A, Alsultan, Abdulrahman, Al-Zahrani, Daifulah, Geha, Raif S, Chatila, Talal A
Published in Journal of allergy and clinical immunology (01.01.2015)
Published in Journal of allergy and clinical immunology (01.01.2015)
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Clinical features and genetic analysis of three patients with Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome due to variants of FOXP3 gene
Zheng, Cuifang, Meng, Yingying, Deng, Zhaohui, Liu, Jing, Yan, Gangfeng, Huang, Ying
Published in Zhonghua yi xue yi chuan xue za zhi (10.02.2024)
Published in Zhonghua yi xue yi chuan xue za zhi (10.02.2024)
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Epigenetic and immunological indicators of IPEX disease in subjects with FOXP3 gene mutation
Narula, Mansi, Lakshmanan, Uma, Borna, Simon, Schulze, Janika J., Holmes, Tyson H., Harre, Nicholas, Kirkey, Matthew, Ramachandran, Akshaya, Tagi, Veronica Maria, Barzaghi, Federica, Grunebaum, Eyal, Upton, Julia E.M., Hong-Diep Kim, Vy, Wysocki, Christian, Dimitriades, Victoria R., Weinberg, Kenneth, Weinacht, Katja G., Gernez, Yael, Sathi, Bindu K., Schelotto, Magdalena, Johnson, Matthew, Olek, Sven, Sachsenmaier, Christoph, Roncarolo, Maria-Grazia, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.01.2023)
Published in Journal of allergy and clinical immunology (01.01.2023)
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease
Dorjbal, Batsukh, Stinson, Jeffrey R., Ma, Chi A., Weinreich, Michael A., Miraghazadeh, Bahar, Hartberger, Julia M., Frey-Jakobs, Stefanie, Weidinger, Stephan, Moebus, Lena, Franke, Andre, Schäffer, Alejandro A., Bulashevska, Alla, Fuchs, Sebastian, Ehl, Stephan, Limaye, Sandhya, Arkwright, Peter D., Briggs, Tracy A., Langley, Claire, Bethune, Claire, Whyte, Andrew F., Alachkar, Hana, Nejentsev, Sergey, DiMaggio, Thomas, Nelson, Celeste G., Stone, Kelly D., Nason, Martha, Brittain, Erica H., Oler, Andrew J., Veltri, Daniel P., Leahy, T. Ronan, Conlon, Niall, Poli, Maria C., Borzutzky, Arturo, Cohen, Jeffrey I., Davis, Joie, Lambert, Michele P., Romberg, Neil, Sullivan, Kathleen E., Paris, Kenneth, Freeman, Alexandra F., Lucas, Laura, Chandrakasan, Shanmuganathan, Savic, Sinisa, Hambleton, Sophie, Patel, Smita Y., Jordan, Michael B., Theos, Amy, Lebensburger, Jeffrey, Atkinson, T. Prescott, Torgerson, Troy R., Chinn, Ivan K., Milner, Joshua D., Grimbacher, Bodo, Cook, Matthew C., Snow, Andrew L.
Published in Journal of allergy and clinical immunology (01.04.2019)
Published in Journal of allergy and clinical immunology (01.04.2019)
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Treatment with rapamycin can restore regulatory T-cell function in IPEX patients
Passerini, Laura, Barzaghi, Federica, Curto, Rosalia, Sartirana, Claudia, Barera, Graziano, Tucci, Francesca, Albarello, Luca, Mariani, Alberto, Testoni, Pier Alberto, Bazzigaluppi, Elena, Bosi, Emanuele, Lampasona, Vito, Neth, Olaf, Zama, Daniele, Hoenig, Manfred, Schulz, Ansgar, Seidel, Markus G., Rabbone, Ivana, Olek, Sven, Roncarolo, Maria G., Cicalese, Maria P., Aiuti, Alessandro, Bacchetta, Rosa
Published in Journal of allergy and clinical immunology (01.04.2020)
Published in Journal of allergy and clinical immunology (01.04.2020)
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Allergic dysregulation and hyperimmunoglobulinemia E in Foxp3 mutant mice
Lin, Wen, Truong, Nga, Grossman, William J., Haribhai, Dipica, Williams, Calvin B., Wang, Jiafang, Martín, Martín G., Chatila, Talal A.
Published in Journal of Allergy and Clinical Immunology (01.11.2005)
Published in Journal of Allergy and Clinical Immunology (01.11.2005)
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Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes
Rubio-Cabezas, Oscar, Minton, Jayne A.L, Caswell, Richard, Shield, Julian P, Deiss, Dorothee, Sumnik, Zdenek, Cayssials, Amely, Herr, Mathias, Loew, Anja, Lewis, Vaughan, Ellard, Sian, Hattersley, Andrew T
Published in Diabetes care (2009)
Published in Diabetes care (2009)
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Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome
Barzaghi, F., Passerini, L., Gambineri, E., Ciullini Mannurita, S., Cornu, T., Kang, E.S., Choe, Y.H., Cancrini, C., Corrente, S., Ciccocioppo, R., Cecconi, M., Zuin, G., Discepolo, V., Sartirana, C., Schmidtko, J., Ikinciogullari, A., Ambrosi, A., Roncarolo, M.G., Olek, S., Bacchetta, R.
Published in Journal of autoimmunity (01.02.2012)
Published in Journal of autoimmunity (01.02.2012)
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Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations
Di Nunzio, Sara, Cecconi, Massimiliano, Passerini, Laura, McMurchy, Alicia N, Baron, Udo, Turbachova, Ivana, Vignola, Silvia, Valencic, Erica, Tommasini, Alberto, Junker, Anne, Cazzola, Giantonio, Olek, Sven, Levings, Megan K, Perroni, Lucia, Roncarolo, Maria Grazia, Bacchetta, Rosa
Published in Blood (05.11.2009)
Published in Blood (05.11.2009)
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Pathogenic Effector T Cell Enrichment Overcomes Regulatory T Cell Control and Generates Autoimmune Gastritis
Monteiro, Joao P, Farache, Julia, Mercadante, Ana Carolina, Mignaco, Julio A, Bonamino, Martin, Bonomo, Adriana
Published in The Journal of immunology (1950) (01.11.2008)
Published in The Journal of immunology (1950) (01.11.2008)
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Allergic dysregulation and hyperimmuno globulinemia E in Foxp3 mutant mice
WEN LIN, TRUONG, Nga, GROSSMAN, William J, HARIBHAI, Dipica, WILLIAMS, Calvin B, JIAFANG WANG, MARTIN, Martin G, CHATILA, Talal A
Published in Journal of allergy and clinical immunology (01.11.2005)
Published in Journal of allergy and clinical immunology (01.11.2005)
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Wild-type FOXP3 is selectively active in CD4+CD25hi regulatory T cells of healthy female carriers of different FOXP3 mutations
Di Nunzio, Sara, Cecconi, Massimiliano, Passerini, Laura, McMurchy, Alicia N., Baron, Udo, Turbachova, Ivana, Vignola, Silvia, Valencic, Erica, Tommasini, Alberto, Junker, Anne, Cazzola, Giantonio, Olek, Sven, Levings, Megan K., Perroni, Lucia, Roncarolo, Maria Grazia, Bacchetta, Rosa
Published in Blood (05.11.2009)
Published in Blood (05.11.2009)
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Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis
Schimke, Lena F., Sawalle-Belohradsky, Julie, Roesler, Joachim, Wollenberg, Andreas, Rack, Anita, Borte, Michael, Rieber, Nikolaus, Cremer, Reinhold, Maaß, Eberhart, Dopfer, Roland, Reichenbach, Janine, Wahn, Volker, Hoenig, Manfred, Jansson, Annette F., Roesen-Wolff, Angela, Schaub, Bianca, Seger, Reinhard, Hill, Harry R., Ochs, Hans D., Torgerson, Troy R., Belohradsky, Bernd H., Renner, Ellen D.
Published in Journal of allergy and clinical immunology (01.09.2010)
Published in Journal of allergy and clinical immunology (01.09.2010)
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Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance
Menard, Laurence, Cantaert, Tineke, Chamberlain, Nicolas, Tangye, Stuart G., Riminton, Sean, Church, Joseph A., Klion, Amy, Cunningham-Rundles, Charlotte, Nichols, Kim E., Meffre, Eric
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
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