Resultados da pesquisa - Lo, Bernice

Gene defects in the soma: some get it and some don’t! Por Lo, Bernice, Lenardo, Michael J.

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Genomics of immune diseases and new therapies Por Lenardo, Michael, Lo, Bernice, Lucas, Carrie L.

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Surfactant Protein D Augments Bacterial Association but Attenuates Major Histocompatibility Complex Class II Presentation of Bacterial Antigens Por Hansen, Soren, Lo, Bernice, Evans, Kathy, Neophytou, Pavlos, Holmskov, Uffe, Wright, Jo Rae

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CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency Por Lo, Bernice, Fritz, Jill M., Su, Helen C., Uzel, Gulbu, Jordan, Michael B., Lenardo, Michael J.

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A rapid ex vivo clinical diagnostic assay for Fas receptor-induced T lymphocyte apoptosis Por Lo, Bernice, Ramaswamy, Madhu, Davis, Joie, Price, Susan, Rao, V. Koneti, Siegel, Richard M., Lenardo, Michael J.

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Lung effector memory and activated CD4+ T cells display enhanced proliferation in SP-A-deficient mice during allergen-mediated inflammation Por Pastva, Amy M., Mukherjee, Sambuddho, Giamberardino, Charles, Hsia, Bethany, Lo, Bernice, Sempowski, Gregory D., Wright, Jo Rae

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X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase Por Agrebi, Nourhen, Gentilcore, Giusy, Grivel, Jean-Charles, Alkhayer, Ghroob, Hassoun, Jihad, Hassan, Amel, Adeli, Mehdi, Lo, Bernice

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A family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes Por Hildebrand, Joanne M., Lo, Bernice, Tomei, Sara, Mattei, Valentina, Young, Samuel N., Fitzgibbon, Cheree, Murphy, James M., Fadda, Abeer

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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency Por Yu, Fang, Agrebi, Nourhen, Mackeh, Rafah, Abouhazima, Khaled, KhudaBakhsh, Khadija, Adeli, Mehdi, Lo, Bernice, Hassan, Amel, Machaca, Khaled

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Clinical, Immunological, and Genetic Features in 49 Patients With ZAP-70 Deficiency: A Systematic Review Por Sharifinejad, Niusha, Jamee, Mahnaz, Zaki-Dizaji, Majid, Lo, Bernice, Shaghaghi, Mohammadreza, Mohammadi, Hamed, Jadidi-Niaragh, Farhad, Shaghaghi, Shiva, Yazdani, Reza, Abolhassani, Hassan, Aghamohammadi, Asghar, Azizi, Gholamreza

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In vitro Interleukin-7 treatment partially rescues MAIT cell dysfunction caused by SARS-CoV-2 infection Por Hubrack, Satanay, Al-Nesf, Maryam Ali, Agrebi, Nourhen, Raynaud, Christophe, Khattab, Mohammed Abu, Thomas, Merlin, Ibrahim, Tayseer, Taha, Salma, Dermime, Said, Merhi, Maysaloun, Kulinski, Michal, Steinhoff, Martin, Tang, Patrick, Lo, Bernice

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Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype Por Fadda, Abeer, Butt, Fiza, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco M., Fakhro, Khalid A., Cugno, Chiara

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Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease Por Al-Shaibi, Ahmad A., Abdel-Motal, Ussama M., Hubrack, Satanay Z., Bullock, Alex N., Al-Marri, Amna A., Agrebi, Nourhen, Al-Subaiey, Abdulrahman A., Ibrahim, Nazira A., Charles, Adrian K., Elawad, Mamoun, Uhlig, Holm H., Lo, Bernice

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Antibodies against insulin measured by electrochemiluminescence predicts insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes s... Por Lo, Bernice, Swafford, Austin DE, Shafer-Weaver, Kimberly A, Jerome, Lawrence F, Rakhlin, Luba, Mathern, Douglas R, Callahan, Conor A, Jiang, Ping, Davison, Lucy J, Stevens, Helen E, Lucas, Carrie L, White, Jill, von Borstel, Reid, Todd, John A, Lenardo, Michael J

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Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations Por Price, Susan, Shaw, Pamela A., Seitz, Amy, Joshi, Gyan, Davis, Joie, Niemela, Julie E., Perkins, Katie, Hornung, Ronald L., Folio, Les, Rosenberg, Philip S., Puck, Jennifer M., Hsu, Amy P., Lo, Bernice, Pittaluga, Stefania, Jaffe, Elaine S., Fleisher, Thomas A., Rao, V. Koneti, Lenardo, Michael J.

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Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS) Por Lisco, Andrea, Wong, Chun-Shu, Price, Susan, Ye, Peiying, Niemela, Julie, Anderson, Megan, Richards, Elizabeth, Manion, Maura, Mystakelis, Harry, Similuk, Morgan, Lo, Bernice, Stoddard, Jennifer, Rosenzweig, Sergio, Vanpouille, Christophe, Rupert, Adam, Maric, Irina, Perez-Diez, Ainhoa, Parenti, David, Burbelo, Peter D., Rao, V. Koneti, Sereti, Irini

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Corrigendum: Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS) Por Lisco, Andrea, Wong, Chun-Shu, Price, Susan, Ye, Peiying, Niemela, Julie, Anderson, Megan, Richards, Elizabeth, Manion, Maura, Mystakelis, Harry, Similuk, Morgan, Lo, Bernice, Stoddard, Jennifer, Rosenzweig, Sergio, Vanpouille, Christophe, Rupert, Adam, Maric, Irina, Perez-Diez, Ainhoa, Parenti, David, Burbelo, Peter D., Rao, V. Koneti, Sereti, Irini

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A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes Por Guennoun, Andrea, Bougarn, Salim, Khan, Taushif, Mackeh, Rafah, Rahman, Mahbuba, Al-Ali, Fatima, Ata, Manar, Aamer, Waleed, Prosser, Debra, Habib, Tanwir, Chin-Smith, Evonne, Al-Darwish, Khawla, Zhang, Qian, Al-Shakaki, Alya, Robay, Amal, Crystal, Ronald G., Fakhro, Khalid, Al-Naimi, Amal, Al Maslamani, Eman, Tuffaha, Amjad, Janahi, Ibrahim, Janahi, Mohammad, Love, Donald R., Karim, Mohammed Yousuf, Lo, Bernice, Hassan, Amel, Adeli, Mehdi, Marr, Nico

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Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4 Por Kuehn, Hye Sun, Ouyang, Weiming, Lo, Bernice, Deenick, Elissa K., Niemela, Julie E., Avery, Danielle T., Schickel, Jean-Nicolas, Tran, Dat Q., Stoddard, Jennifer, Zhang, Yu, Frucht, David M., Dumitriu, Bogdan, Scheinberg, Phillip, Folio, Les R., Frein, Cathleen A., Price, Susan, Koh, Christopher, Heller, Theo, Seroogy, Christine M., Huttenlocher, Anna, Rao, V. Koneti, Su, Helen C., Kleiner, David, Notarangelo, Luigi D., Rampertaap, Yajesh, Olivier, Kenneth N., McElwee, Joshua, Hughes, Jason, Pittaluga, Stefania, Oliveira, Joao B., Meffre, Eric, Fleisher, Thomas A., Holland, Steven M., Lenardo, Michael J., Tangye, Stuart G., Uzel, Gulbu

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Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency Por Kiykim, Ayca, Ogulur, Ismail, Dursun, Esra, Charbonnier, Louis Marie, Nain, Ercan, Cekic, Sukru, Dogruel, Dilek, Karaca, Neslihan Edeer, Cogurlu, Mujde Tuba, Bilir, Ozlem Arman, Cansever, Murat, Kapakli, Hasan, Baser, Dilek, Kasap, Nurhan, Kutlug, Seyhan, Altintas, Derya Ufuk, Al-Shaibi, Ahmad, Agrebi, Nourhen, Kara, Manolya, Guven, Ayla, Somer, Ayper, Aydogmus, Cigdem, Ayaz, Nuray Aktay, Metin, Ayse, Aydogan, Metin, Uncuoglu, Aysen, Patiroglu, Turkan, Yildiran, Alisan, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Aksu, Guzide, Kutukculer, Necil, Kilic, Sara S., Yilmaz, Mustafa, Karakoc-Aydiner, Elif, Lo, Bernice, Ozen, Ahmet, Chatila, Talal A., Baris, Safa

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