Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea
Ma, Chi A., Xi, Liqiang, Cauff, Brian, DeZure, Adam, Freeman, Alexandra F., Hambleton, Sophie, Kleiner, Gary, Leahy, T.Ronan, O'Sullivan, Maureen, Makiya, Michelle, O'Regan, Grainne, Pittaluga, Stefania, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Raffeld, Mark, Klion, Amy D., Milner, Joshua D.
Published in Blood (02.02.2017)
Published in Blood (02.02.2017)
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Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects
Lev, Atar, Lee, Yu Nee, Sun, Guangping, Hallumi, Enas, Simon, Amos J., Zrihen, Keren S., Levy, Shiran, Beit Halevi, Tal, Papazian, Maria, Shwartz, Neta, Somekh, Ido, Levy-Mendelovich, Sarina, Wolach, Baruch, Gavrieli, Ronit, Vernitsky, Helly, Barel, Ortal, Javasky, Elisheva, Stauber, Tali, Ma, Chi A., Zhang, Yuan, Amariglio, Ninette, Rechavi, Gideon, Hendel, Ayal, Yablonski, Deborah, Milner, Joshua D., Somech, Raz
Published in The Journal of experimental medicine (01.03.2021)
Published in The Journal of experimental medicine (01.03.2021)
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Journal Article
PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients
Zhang, Yuan, Ma, Chi A, Lawrence, Monica G, Break, Timothy J, O'Connell, Michael P, Lyons, Jonathan J, López, Diego B, Barber, John S, Zhao, Yongge, Barber, Daniel L, Freeman, Alexandra F, Holland, Steven M, Lionakis, Michail S, Milner, Joshua D
Published in The Journal of experimental medicine (04.09.2017)
Published in The Journal of experimental medicine (04.09.2017)
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Journal Article
Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK
Wang, Hong-Ying, Ma, Chi A., Zhao, Yongge, Fan, Xiying, Zhou, Qing, Edmonds, Pamela, Uzel, Gulbu, Oliveira, Joao Bosco, Orange, Jordan, Jain, Ashish
Published in Proceedings of the National Academy of Sciences - PNAS (26.03.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.03.2013)
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Journal Article
CYLD and the NEMO Zinc Finger Regulate Tumor Necrosis Factor Signaling and Early Embryogenesis
Zhao, Yongge, Ma, Chi A., Wu, Liming, Iwai, Kazuhiro, Ashwell, Jonathan D., Oltz, Eugene M., Ballard, Dean W., Jain, Ashish
Published in The Journal of biological chemistry (04.09.2015)
Published in The Journal of biological chemistry (04.09.2015)
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Journal Article
Novel INHAT Repressor (NIR) is required for early lymphocyte development
Ma, Chi A, Pusso, Antonia, Wu, Liming, Zhao, Yongge, Hoffmann, Victoria, Notarangelo, Luigi D, Fowlkes, B J, Jain, Ashish
Published in Proceedings of the National Academy of Sciences - PNAS (23.09.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (23.09.2014)
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Journal Article
Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation
Jain, Ashish, Ma, Chi A, Lopez-Granados, Eduardo, Means, Gary, Brady, William, Orange, Jordan S, Liu, Shuying, Holland, Steven, Derry, Jonathan M J
Published in The Journal of clinical investigation (01.12.2004)
Published in The Journal of clinical investigation (01.12.2004)
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Journal Article
Convergence of Clinical and Cellular Phenotypes Among Patients with STAT3 and ERBB2IP Mutations
Lyons, Jonathan J., MD, Yu, Xiaomin, PhD, Karpe, Kendal A., BS, Treadwell, Shirin M., MS, Ma, Chi A., PhD, O'Connell, Michael P., PhD, Sun, Guangping, MD, Hughes, Jason D., PhD, Mehmet, Huseyin, PhD, McElwee, Joshua, PhD, Holland, Steven M., MD, Freeman, Alexandra F., MD, Milner, Joshua D., MD
Published in Journal of allergy and clinical immunology (01.02.2015)
Published in Journal of allergy and clinical immunology (01.02.2015)
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Journal Article
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
Spencer, Sarah, Köstel Bal, Sevgi, Egner, William, Lango Allen, Hana, Raza, Syed I, Ma, Chi A, Gürel, Meltem, Zhang, Yuan, Sun, Guangping, Sabroe, Ruth A, Greene, Daniel, Rae, William, Shahin, Tala, Kania, Katarzyna, Ardy, Rico Chandra, Thian, Marini, Staples, Emily, Pecchia-Bekkum, Annika, Worrall, William P M, Stephens, Jonathan, Brown, Matthew, Tuna, Salih, York, Melanie, Shackley, Fiona, Kerrin, Diarmuid, Sargur, Ravishankar, Condliffe, Alison, Tipu, Hamid Nawaz, Kuehn, Hye Sun, Rosenzweig, Sergio D, Turro, Ernest, Tavaré, Simon, Thrasher, Adrian J, Jodrell, Duncan Ian, Smith, Kenneth G C, Boztug, Kaan, Milner, Joshua D, Thaventhiran, James E D
Published in The Journal of experimental medicine (02.09.2019)
Published in The Journal of experimental medicine (02.09.2019)
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Journal Article
Germline hypomorphic CARD11 mutations in severe atopic disease
Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Published in Nature genetics (01.08.2017)
Published in Nature genetics (01.08.2017)
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Journal Article
Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis
Peled, Alon, Sarig, Ofer, Sun, Guangping, Samuelov, Liat, Ma, Chi A., Zhang, Yuan, Dimaggio, Tom, Nelson, Celeste G., Stone, Kelly D., Freeman, Alexandra F., Malki, Liron, Vidal, Lucia Seminario, Chamarthy, Latha M., Briskin, Valeria, Mohamad, Janan, Pavlovsky, Mor, Walter, Jolan E., Milner, Joshua D., Sprecher, Eli
Published in Journal of allergy and clinical immunology (01.01.2019)
Published in Journal of allergy and clinical immunology (01.01.2019)
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Journal Article
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome
Baghdassarian, Hratch, Blackstone, Sarah A., Clay, Owen S., Philips, Rachael, Matthiasardottir, Brynja, Nehrebecky, Michele, Hua, Vivian K., McVicar, Rachael, Liu, Yang, Tucker, Suzanne M., Randazzo, Davide, Deuitch, Natalie, Rosenzweig, Sofia, Mark, Adam, Sasik, Roman, Fisch, Kathleen M., Pimpale Chavan, Pallavi, Eren, Elif, Watts, Norman R., Ma, Chi A., Gadina, Massimo, Schwartz, Daniella M., Sanyal, Anwesha, Werner, Giffin, Murdock, David R., Horita, Nobuyuki, Chowdhury, Shimul, Dimmock, David, Jepsen, Kristen, Remmers, Elaine F., Goldbach-Mansky, Raphaela, Gahl, William A., O’Shea, John J., Milner, Joshua D., Lewis, Nathan E., Chang, Johanna, Kastner, Daniel L., Torok, Kathryn, Oda, Hirotsugu, Putnam, Christopher D., Broderick, Lori
Published in The New England journal of medicine (15.06.2023)
Published in The New England journal of medicine (15.06.2023)
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Journal Article
Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire
Frizinsky, Shirly, Rechavi, Erez, Barel, Ortal, Najeeb, Rose H., Greenberger, Shoshana, Lee, Yu Nee, Simon, Amos J., Lev, Atar, Ma, Chi A., Sun, Guangping, Blackstone, Sarah A., Milner, Joshua D., Somech, Raz, Stauber, Tali
Published in Journal of clinical immunology (01.05.2019)
Published in Journal of clinical immunology (01.05.2019)
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Journal Article
Impaired regulation of NF-κB and increased susceptibility to colitis-associated tumorigenesis in CYLD-deficient mice
Zhang, Jun, Stirling, Brigid, Temmerman, Stephane T, Ma, Chi A, Fuss, Ivan J, Derry, Jonathan M.J, Jain, Ashish
Published in The Journal of clinical investigation (01.11.2006)
Published in The Journal of clinical investigation (01.11.2006)
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Journal Article
The Deubiquitinase CYLD Targets Smad7 Protein to Regulate Transforming Growth Factor β (TGF-β) Signaling and the Development of Regulatory T Cells
Zhao, Yongge, Thornton, Angela M., Kinney, Matthew C., Ma, Chi A., Spinner, Jacob J., Fuss, Ivan J., Shevach, Ethan M., Jain, Ashish
Published in The Journal of biological chemistry (25.11.2011)
Published in The Journal of biological chemistry (25.11.2011)
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Journal Article
novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency
Lopez-Granados, Eduardo, Keenan, Jeffrey E, Kinney, Matthew C, Leo, Harvey, Jain, Neal, Ma, Chi A, Quinones, Ralph, Gelfand, Erwin W, Jain, Ashish
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Journal Article
TGF-β pathway activation primes naïve lymphocytes to support atopic phenotypes in humans
Lyons, Jonathan, MD, Liu, Yihui, PhD, Ma, Chi A., PhD, Yu, Xiaomin, O'Connell, Michael, Hughes, Jason, McElwee, Joshua, Stone, Kelly D., MD, PhD, FAAAAI, Frischmeyer-Guerrerio, Pamela A., MD, PhD, Holland, Steven M., MD, Freeman, Alexandra F., MD, Milner, Joshua D., 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
Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency
Temmerman, Stephane T, Ma, Chi A, Zhao, Yongge, Keenan, Jeffrey, Aksentijevich, Ivona, Fessler, Margaret, Brown, Margaret R, Knutsen, Alan, Shapiro, Ralph, Jain, Ashish
Published in The Journal of clinical investigation (01.01.2012)
Published in The Journal of clinical investigation (01.01.2012)
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