نتائج البحث - Vargas-Hernandez, Alexander

Phenotypic and Functional Plasticity of CXCR6(+) Peripheral Blood NK Cells حسب Angelo, Laura S., Hogg, Graham D., Abeynaike, Shawn, Bimler, Lynn, Vargas-Hernandez, Alexander, Paust, Silke

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Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma حسب Henrickson, Sarah E., Dolan, Joseph G., Forbes, Lisa R., Vargas-Hernández, Alexander, Nishimura, Shiho, Okada, Satoshi, Kersun, Leslie S., Brodeur, Garrett M., Heimall, Jennifer R.

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High-resolution phenotyping identifies NK cell subsets that distinguish healthy children from adults حسب Mahapatra, Sanjana, Mace, Emily M., Minard, Charles G., Forbes, Lisa R., Vargas-Hernandez, Alexander, Duryea, Teresa K., Makedonas, George, Banerjee, Pinaki P., Shearer, William T., Orange, Jordan S.

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A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome حسب Chaimowitz, Natalia S., Branch, Justin, Reyes, Anaid, Vargas-Hernández, Alexander, Orange, Jordan S., Forbes, Lisa R., Ehlayel, Mohammed, Purayil, Saleema C., Al-Nesf, Maryam Ali, Vogel, Tiphanie P.

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Human STAT5b mutation causes dysregulated human natural killer cell maturation and impaired lytic function. حسب Vargas-Hernández, Alexander, Witalisz-Siepracka, Agnieszka, Prchal-Murphy, Michaela, Klein, Klara, Mahapatra, Sanjana, Al-Herz, Waleed, Mace, Emily M., Carisey, Alexandre F., Orange, Jordan S, Sexl, Veronika, Forbes, Lisa R.

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Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome حسب Aird, Alejandra, Lagos, Macarena, Vargas-Hernández, Alexander, Posey, Jennifer E., Coban-Akdemir, Zeynep, Jhangiani, Shalini, Mace, Emily M., Reyes, Anaid, King, Alejandra, Cavagnaro, Felipe, Forbes, Lisa R., Chinn, Ivan K., Lupski, James R., Orange, Jordan S., Poli, Maria Cecilia

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Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment حسب Ruiz-García, Raquel, Vargas-Hernandez, Alexander, Chinn, Ivan K., Angelo, Laura S., Cao, Tram N., Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Meng, Qingchang, Forbes, Lisa R., Muzny, Donna M., Allende, Luis M., Ehlayel, Mohammed S., Gibbs, Richard A., Lupski, James R., Uzel, Gulbu, Orange, Jordan S., Mace, Emily M.

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Ruxolitinib partially reverses functional NK cell deficiency in patients with STAT1 gain-of-function mutations حسب Vargas-Hernandez, Alexander, Mace, Emily M., Zimmerman, Ofer, Zerbe, Christa S., Freeman, Alexandra F., Rosenzweig, Sergio, Leiding, Jennifer W., Torgerson, Troy, Altman, Matthew C., Schussler, Edith, Cunningham-Rundles, Charlotte, Chinn, Ivan K., Carisey, Alexandre F., Hanson, Imelda C., Rider, Nicholas L., Holland, Steven M., Orange, Jordan S., Forbes, Lisa R.

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Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID حسب Kuhny, Marcel, Forbes, Lisa R., Çakan, Elif, Vega-Loza, Andrea, Kostiuk, Valentyna, Dinesh, Ravi K., Glauzy, Salomé, Stray-Pedersen, Asbjorg, Pezzi, Ashley E., Hanson, I. Celine, Vargas-Hernandez, Alexander, Xu, Mina LuQuing, Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Chinn, Ivan K., Schatz, David G., Orange, Jordan S., Meffre, Eric

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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease حسب Cook, Sarah A., Comrie, William A., Poli, M. Cecilia, Similuk, Morgan, Oler, Andrew J., Faruqi, Aiman J., Kuhns, Douglas B., Yang, Sheng, Vargas-Hernández, Alexander, Carisey, Alexandre F., Fournier, Benjamin, Anderson, D. Eric, Price, Susan, Smelkinson, Margery, Abou Chahla, Wadih, Forbes, Lisa R., Mace, Emily M., Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Cuvelier, Geoffrey D.E., Al Hassani, Moza, AL Kaabi, Nawal, Al Yafei, Zain, Jyonouchi, Soma, Raje, Nikita, Caldwell, Jason W., Huang, Yanping, Burkhardt, Janis K., Latour, Sylvain, Chen, Baoyu, ElGhazali, Gehad, Rao, V. Koneti, Chinn, Ivan K., Lenardo, Michael J.

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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations حسب Milner, Joshua D., Vogel, Tiphanie P., Forbes, Lisa, Ma, Chi A., Stray-Pedersen, Asbjørg, Niemela, Julie E., Lyons, Jonathan J., Engelhardt, Karin R., Zhang, Yu, Topcagic, Nermina, Roberson, Elisha D. O., Matthews, Helen, Verbsky, James W., Dasu, Trivikram, Vargas-Hernandez, Alexander, Varghese, Nidhy, McClain, Kenneth L., Karam, Lina B., Nahmod, Karen, Makedonas, George, Mace, Emily M., Sorte, Hanne S., Perminow, Gøri, Rao, V. Koneti, O’Connell, Michael P., Price, Susan, Su, Helen C., Butrick, Morgan, McElwee, Joshua, Hughes, Jason D., Willet, Joseph, Swan, David, Xu, Yaobo, Santibanez-Koref, Mauro, Slowik, Voytek, Dinwiddie, Darrell L., Ciaccio, Christina E., Saunders, Carol J., Septer, Seth, Kingsmore, Stephen F., White, Andrew J., Cant, Andrew J., Hambleton, Sophie, Cooper, Megan A.

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