Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation von Thian, Marini, Hoeger, Birgit, Kamnev, Anton, Poyer, Fiona, Köstel Bal, Sevgi, Caldera, Michael, Jiménez-Heredia, Raúl, Huemer, Jakob, Pickl, Winfried F, Groß, Miriam, Ehl, Stephan, Lucas, Carrie L, Menche, Jörg, Hutter, Caroline, Attarbaschi, Andishe, Dupré, Loïc, Boztug, Kaan

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Prior exposure to inhaled allergen enhances anti-viral immunity and T cell priming by dendritic cells von Lee, Debbie C P, Tay, Neil Q, Thian, Marini, Prabhu, Nayana, Furuhashi, Kazuki, Kemeny, David M

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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses von 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

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Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation von Thian, Marini, Hoeger, Birgit, Kamnev, Anton, Poyer, Fiona, Bal, Sevgi Koestel, Caldera, Michael, Jimenez-Heredia, Raul, Huemer, Jakob, Pickl, Winfried F., Gross, Miriam, Ehl, Stephan, Lucas, Carrie L., Menche, Joerg, Hutter, Caroline, Attarbaschi, Andishe, Dupre, Loic, Boztug, Kaan

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CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis von Somekh, Ido, Thian, Marini, Medgyesi, David, Gülez, Nesrin, Magg, Thomas, Gallón Duque, Alejandro, Stauber, Tali, Lev, Atar, Genel, Ferah, Unal, Ekrem, Simon, Amos J., Lee, Yu Nee, Kalinichenko, Artem, Dmytrus, Jasmin, Kraakman, Michael J., Schiby, Ginette, Rohlfs, Meino, Jacobson, Jeffrey M., Özer, Erdener, Akcal, Ömer, Conca, Raffaele, Patiroglu, Türkan, Karakukcu, Musa, Ozcan, Alper, Shahin, Tala, Appella, Eliana, Tatematsu, Megumi, Martinez-Jaramillo, Catalina, Chinn, Ivan K., Orange, Jordan S., Trujillo-Vargas, Claudia Milena, Franco, José Luis, Hauck, Fabian, Somech, Raz, Klein, Christoph, Boztug, Kaan

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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency von van Rijn, Jorik M., Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y., van der Doef, Hubert P.J., van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M., Thian, Marini, Kokke, Freddy T.M., Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A., Lichtenbelt, Klaske D., Massink, Maarten P.G., Duran, Karen J., Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J., Brouwer, Henricus G.F., Verkade, Henkjan J., Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S., Coffer, Paul J., Janecke, Andreas R., van Haaften, Gijs, Houwen, Roderick H.J., Müller, Thomas, Middendorp, Sabine, Boztug, Kaan

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RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis von Kalinichenko, Artem, Perinetti Casoni, Giovanna, Dupré, Loïc, Trotta, Luca, Huemer, Jakob, Galgano, Donatella, German, Yolla, Haladik, Ben, Pazmandi, Julia, Thian, Marini, Yüce Petronczki, Özlem, Chiang, Samuel C., Taskinen, Mervi, Hekkala, Anne, Kauppila, Saila, Lindgren, Outi, Tapiainen, Terhi, Kraakman, Michael J., Vettenranta, Kim, Lomakin, Alexis J., Saarela, Janna, Seppänen, Mikko R.J., Bryceson, Yenan T., Boztug, Kaan

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Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis von Kostel Bal, Sevgi, Giuliani, Sarah, Block, Jana, Repiscak, Peter, Hafemeister, Christoph, Shahin, Tala, Kasap, Nurhan, Ransmayr, Bernhard, Miao, Yirun, van de Wetering, Cheryl, Frohne, Alexandra, Jimenez Heredia, Raul, Schuster, Michael, Zoghi, Samaneh, Hertlein, Vanessa, Thian, Marini, Bykov, Aleksandr, Babayeva, Royala, Bilgic Eltan, Sevgi, Karakoc-Aydiner, Elif, Shaw, Lisa E, Chowdhury, Iftekhar, Varjosalo, Markku, Argüello, Rafael J, Farlik, Matthias, Ozen, Ahmet, Serfling, Edgar, Dupré, Loïc, Bock, Christoph, Halbritter, Florian, Hannich, J Thomas, Castanon, Irinka, Kraakman, Michael J, Baris, Safa, Boztug, Kaan

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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency von van Rijn, Jorik M, Ardy, Rico Chandra, Kuloğlu, Zarife, Härter, Bettina, van Haaften-Visser, Désirée Y, van der Doef, Hubert P.J, van Hoesel, Marliek, Kansu, Aydan, van Vugt, Anke H.M, Thian, Marini, Kokke, Freddy T.M, Krolo, Ana, Başaran, Meryem Keçeli, Kaya, Neslihan Gurcan, Aksu, Aysel Ünlüsoy, Dalgıç, Buket, Ozcay, Figen, Baris, Zeren, Kain, Renate, Stigter, Edwin C.A, Lichtenbelt, Klaske D, Massink, Maarten P.G, Duran, Karen J, Verheij, Joke B.G.M, Lugtenberg, Dorien, Nikkels, Peter G.J, Brouwer, Henricus G.F, Verkade, Henkjan J, Scheenstra, René, Spee, Bart, Nieuwenhuis, Edward E.S, Coffer, Paul J, Janecke, Andreas R, van Haaften, Gijs, Houwen, Roderick H.J, Müller, Thomas, Middendorp, Sabine, Boztug, Kaan

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Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation von Thian, Marini, Hoeger, Birgit, Kamnev, Anton, Poyer, Fiona, Köstel Bal, Sevgi, Caldera, Michael, Jiménez-Heredia, Raúl, Huemer, Jakob, Pickl, Winfried F, Groß, Miriam, Ehl, Stephan, Lucas, Carrie L, Menche, Jörg, Hutter, Caroline, Attarbaschi, Andishe, Dupré, Loïc, Boztug, Kaan

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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses von Thaventhiran, James, Spencer, Sarah, Kostel Bal, Sevgi, Egner, William, Lango Allen, Hana, Syed, Irfan Raza, Ma, Chi A, Gurel, 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 PM, 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, Tavare, Simon, Thrasher, Adrian J, Jodrell, Duncan I, Smith, Kenneth GC, Boztug, Kaan, Milner, Joshua D

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