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  1. Thian, Marini [Author]; Höger, Birgit [Author]; Kamnev, Anton [Author]; Poyer, Fiona [Author]; Köstel Bal, Sevgi [Author]; Caldera, Michael [Author]; Jiménez-Heredia, Raúl [Author]; Huemer, Jakob [Author]; Pickl, Winfried F. [Author]; Gross, Miriam [Author]; Ehl, Stephan [Author]; Lucas, Carrie L. [Author]; Menche, Jörg [Author]; Hutter, Caroline [Author]; Attarbaschi, Andishe [Author]; Dupré, Loïc [Author]; Boztug, Kaan [Author]

    Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation : letter to the editor

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    Pavia: Ferrata Storti Foundation, 2020

    Published in: Haematologica ; 105, 10 (2020), e488

  3. Marini Thian; Birgit Hoeger; Anton Kamnev; Fiona Poyer; Sevgi Köstel Bal; Michael Caldera; Raúl Jiménez-Heredia; Jakob Huemer; Winfried F. Pickl; Miriam Groß; Stephan Ehl; Carrie L. Lucas; Jörg Menche; Caroline Hutter; Andishe Attarbaschi; Loïc Dupré; Kaan Boztug

    Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

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    Ferrata Storti Foundation (Haematologica), 2020

    Published in: Haematologica

  4. 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

    RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

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    American Society of Hematology, 2021

    Published in: Blood

  5. 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.; [...]

    Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

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    American Society of Hematology, 2023

    Published in: Blood

  6. 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; [...]

    CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

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    American Society of Hematology, 2019

    Published in: Blood

  7. 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; [...]

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

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    Rockefeller University Press, 2019

    Published in: Journal of Experimental Medicine

  8. 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; [...]

    Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

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    Elsevier BV, 2018

    Published in: Gastroenterology