Rezultati - Vargas-Hernandez, Alexander

Phenotypic and Functional Plasticity of CXCR6(+) Peripheral Blood NK Cells od 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 od 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 od 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 od 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. od 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 od 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 od 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 od 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 od 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 od 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 od 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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