Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
Uzel, Gulbu, MD, Sampaio, Elizabeth P., MD, PhD, Lawrence, Monica G., MD, Hsu, Amy P., BA, Hackett, Mary, BSN, Dorsey, Morna J., MD, Noel, Richard J., MD, Verbsky, James W., MD, PhD, Freeman, Alexandra F., MD, Janssen, Erin, MD, Bonilla, Francisco A., MD, PhD, Pechacek, Joseph, MS, Chandrasekaran, Prabha, PhD, Browne, Sarah K., MD, Agharahimi, Anahita, MSN, CRNP, Gharib, Ahmed M., MD, Mannurita, Sara C., MD, Yim, Jae Joon, MD, MPH, Gambineri, Eleonora, MD, Torgerson, Troy, MD, PhD, Tran, Dat Q., MD, Milner, Joshua D., MD, Holland, Steven M., MD
Published in Journal of allergy and clinical immunology (01.06.2013)
Published in Journal of allergy and clinical immunology (01.06.2013)
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Journal Article
Opposing roles of STAT1 and STAT3 in IL-21 function in CD4⁺ T cells
Wan, Chi-Keung, Andraski, Allison B., Spolski, Rosanne, Li, Peng, Kazemian, Majid, Oh, Jangsuk, Samsel, Leigh, Swanson, Phillip A., McGavern, Dorian B., Sampaio, Elizabeth P., Freeman, Alexandra F., Milner, Joshua D., Holland, Steven M., Leonard, Warren J.
Published in Proceedings of the National Academy of Sciences - PNAS (28.07.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (28.07.2015)
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Inhaled amikacin for treatment of refractory pulmonary nontuberculous mycobacterial disease
Olivier, Kenneth N, Shaw, Pamela A, Glaser, Tanya S, Bhattacharyya, Darshana, Fleshner, Michelle, Brewer, Carmen C, Zalewski, Christopher K, Folio, Les R, Siegelman, Jenifer R, Shallom, Shamira, Park, In Kwon, Sampaio, Elizabeth P, Zelazny, Adrian M, Holland, Steven M, Prevots, D Rebecca
Published in Annals of the American Thoracic Society (01.01.2014)
Published in Annals of the American Thoracic Society (01.01.2014)
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Journal Article
Transcriptional Response of Respiratory Epithelium to Nontuberculous Mycobacteria
Matsuyama, Masashi, Martins, Andrew J, Shallom, Shamira, Kamenyeva, Olena, Kashyap, Anuj, Sampaio, Elizabeth P, Kabat, Juraj, Olivier, Kenneth N, Zelazny, Adrian M, Tsang, John S, Holland, Steven M
Published in American journal of respiratory cell and molecular biology (01.02.2018)
Published in American journal of respiratory cell and molecular biology (01.02.2018)
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Journal Article
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
Zimmerman, Ofer, Olbrich, Peter, Freeman, Alexandra F, Rosen, Lindsey B, Uzel, Gulbu, Zerbe, Christa S, Rosenzweig, Sergio D, Kuehn, Hye Sun, Holmes, Kevin L, Stephany, David, Ding, Li, Sampaio, Elizabeth P, Hsu, Amy P, Holland, Steven M
Published in Frontiers in immunology (10.07.2019)
Published in Frontiers in immunology (10.07.2019)
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Cohort Study of Molecular Identification and Typing of Mycobacterium abscessus, Mycobacterium massiliense, and Mycobacterium bolletii
Zelazny, Adrian M, Root, Jeremy M, Shea, Yvonne R, Colombo, Rhonda E, Shamputa, Isdore C, Stock, Frida, Conlan, Sean, McNulty, Steven, Brown-Elliott, Barbara A, Wallace, Richard J. Jr, Olivier, Kenneth N, Holland, Steven M, Sampaio, Elizabeth P
Published in Journal of Clinical Microbiology (01.07.2009)
Published in Journal of Clinical Microbiology (01.07.2009)
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Journal Article
New Rapid Scheme for Distinguishing the Subspecies of the Mycobacterium abscessus Group and Identifying Mycobacterium massiliense Isolates with Inducible Clarithromycin Resistance
Shallom, Shamira J, Gardina, Paul J, Myers, Timothy G, Sebastian, Yinong, Conville, Patricia, Calhoun, Leslie B, Tettelin, Hervé, Olivier, Kenneth N, Uzel, Gulbu, Sampaio, Elizabeth P, Holland, Steven M, Zelazny, Adrian M
Published in Journal of Clinical Microbiology (01.09.2013)
Published in Journal of Clinical Microbiology (01.09.2013)
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Journal Article
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature
Zerbe, Christa S., Marciano, Beatriz E., Katial, Rohit K., Santos, Carah B., Adamo, Nick, Hsu, Amy P., Hanks, Mary E., Darnell, Dirk N., Quezado, Martha M., Frein, Cathleen, Barnhart, Lisa A., Anderson, Victoria L., Uzel, Gulbu, Freeman, Alexandra F., Lisco, Andrea, Nath, Avindra, Major, Eugene O., Sampaio, Elizabeth P., Holland, Steven M.
Published in Clinical infectious diseases (15.04.2016)
Published in Clinical infectious diseases (15.04.2016)
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Journal Article
Clonal Diversification and Changes in Lipid Traits and Colony Morphology in Mycobacterium abscessus Clinical Isolates
Park, In Kwon, Hsu, Amy P, Tettelin, Hervé, Shallom, Shamira J, Drake, Steven K, Ding, Li, Wu, Un-In, Adamo, Nick, Prevots, D Rebecca, Olivier, Kenneth N, Holland, Steven M, Sampaio, Elizabeth P, Zelazny, Adrian M
Published in Journal of clinical microbiology (01.11.2015)
Published in Journal of clinical microbiology (01.11.2015)
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Journal Article
Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function
Sampaio, Elizabeth P., Ding, Li, Rose, Stacey R., Cruz, Phillip, Hsu, Amy P., Kashyap, Anuj, Rosen, Lindsey B., Smelkinson, Margery, Tavella, Tatyana A., Ferre, Elise M.N., Wierman, Meredith K., Zerbe, Christa S., Lionakis, Michail S., Holland, Steven M.
Published in Journal of allergy and clinical immunology (01.05.2018)
Published in Journal of allergy and clinical immunology (01.05.2018)
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Journal Article
Distinct mutations at the same positions of STAT3 cause either loss or gain of function
Chandrasekaran, Prabha, PhD, Zimmerman, Ofer, MD, Paulson, Michelle, MD, Sampaio, Elizabeth P., MD, PhD, Freeman, Alexandra F., MD, Sowerwine, Kathryn J., MD, Hurt, Darell, PhD, Alcántara-Montiel, Julio C., MD, PhD, Hsu, Amy P., BA, Holland, Steven M., MD
Published in Journal of allergy and clinical immunology (01.10.2016)
Published in Journal of allergy and clinical immunology (01.10.2016)
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Journal Article
Evolution of Mycobacterium abscessus in the human lung: Cumulative mutations and genomic rearrangement of porin genes in patient isolates
Shallom, Shamira J., Tettelin, Hervé, Chandrasekaran, Prabha, Park, In Kwon, Agrawal, Sonia, Arora, Kriti, Sadzewicz, Lisa, Milstone, Aaron M., Aitken, Moira L., Brown-Elliott, Barbara A., Wallace, Richard J., Sampaio, Elizabeth P., Niederweis, Michael, Olivier, Kenneth N., Holland, Steven M., Zelazny, Adrian M.
Published in Virulence (31.12.2023)
Published in Virulence (31.12.2023)
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Journal Article
Gain-of-function signal transducer and activator of transcription 1 ( STAT1 ) mutation–related primary immunodeficiency is associated with disseminated mucormycosis
Kumar, Nilay, MD, Hanks, Mary E., BSc, Chandrasekaran, Prabha, PhD, Davis, Brian C., MD, Hsu, Amy P., BA, Van Wagoner, Nicholas J., MD, Merlin, Jessica S., MD, Spalding, Christine, BSc, La Hoz, Ricardo M., MD, Holland, Steven M., MD, Zerbe, Christa S., MD, Sampaio, Elizabeth P., MD, PhD
Published in Journal of allergy and clinical immunology (01.07.2014)
Published in Journal of allergy and clinical immunology (01.07.2014)
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Journal Article
A Novel STAT1 Mutation in a Child with Pulmonary Mycobacterium avium Complex (MAC) Infection and Multifocal Lytic Bone Lesions
Nguyen, Huyen-Tran, MD, Sampaio, Elizabeth P., MD, PhD, Rosen, Lindsey B., BS, Holland, Steven M., MD, Kucuk, Zeynep Yesim, MD
Published in Journal of allergy and clinical immunology (01.02.2017)
Published in Journal of allergy and clinical immunology (01.02.2017)
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Journal Article
Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease
Zimmerman, Ofer, Rösler, Berenice, Zerbe, Christa S, Rosen, Lindsey B, Hsu, Amy P, Uzel, Gulbu, Freeman, Alexandra F, Sampaio, Elizabeth P, Rosenzwieg, Sergio D, Kuehn, Hye Sun, Kim, Tiffany, Brooks, Kristina M, Kumar, Parag, Wang, Xiaowen, Netea, Mihai G, van de Veerdonk, Frank L, Holland, Steven M
Published in Open forum infectious diseases (2017)
Published in Open forum infectious diseases (2017)
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Journal Article
Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency
Korol, Cecilia B., Shallom, Shamira J., Arora, Kriti, Boshoff, Helena I., Freeman, Alexandra F., King, Alejandra, Agrawal, Sonia, Daugherty, Sean C., Jancel, Timothy, Kabat, Juraj, Ganesan, Sundar, Torrero, Marina N., Sampaio, Elizabeth P., Barry, Clifton, Holland, Steve M, Tettelin, Hervé, Rosenzweig, Sergio D, Zelazny, Adrian M.
Published in Virulence (01.12.2020)
Published in Virulence (01.12.2020)
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Impact of PGL-I seropositivity on the protective effect of BCG vaccination among leprosy contacts: a cohort study
Düppre, Nádia C, Camacho, Luiz Antonio B, Sales, Anna M, Illarramendi, Ximena, Nery, José Augusto C, Sampaio, Elizabeth P, Sarno, Euzenir N, Bührer-Sékula, Samira
Published in PLoS neglected tropical diseases (01.06.2012)
Published in PLoS neglected tropical diseases (01.06.2012)
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Journal Article
Adaptability and persistence of the emerging pathogen Bordetella petrii
Zelazny, Adrian M, Ding, Li, Goldberg, Joanna B, Mijares, Lilia A, Conlan, Sean, Conville, Patricia S, Stock, Frida, Ballentine, Samuel J, Olivier, Kenneth N, Sampaio, Elizabeth P, Murray, Patrick R, Holland, Steven M
Published in PloS one (04.06.2013)
Published in PloS one (04.06.2013)
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Journal Article
Genomic Insights into the Emerging Human Pathogen Mycobacterium massiliense
Tettelin, Hervé, Sampaio, Elizabeth P, Daugherty, Sean C, Hine, Erin, Riley, David R, Sadzewicz, Lisa, Sengamalay, Naomi, Shefchek, Kent, Su, Qi, Tallon, Luke J, Conville, Patricia, Olivier, Kenneth N, Holland, Steven M, Fraser, Claire M, Zelazny, Adrian M
Published in Journal of Bacteriology (01.10.2012)
Published in Journal of Bacteriology (01.10.2012)
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Journal Article
Evaluation of Real-Time and Conventional PCR Targeting Complex 85 Genes for Detection of Mycobacterium leprae DNA in Skin Biopsy Samples from Patients Diagnosed with Leprosy
Martinez, Alejandra N, Britto, Constança F.P.C, Nery, José A.C, Sampaio, Elizabeth P, Jardim, Márcia R, Sarno, Euzenir N, Moraes, Milton O
Published in Journal of Clinical Microbiology (01.09.2006)
Published in Journal of Clinical Microbiology (01.09.2006)
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