Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
Serwas, Nina K., Hoeger, Birgit, Ardy, Rico C., Stulz, Sigrun V., Sui, Zhenhua, Memaran, Nima, Meeths, Marie, Krolo, Ana, Yüce Petronczki, Özlem, Pfajfer, Laurène, Hou, Tie Z., Halliday, Neil, Santos-Valente, Elisangela, Kalinichenko, Artem, Kennedy, Alan, Mace, Emily M., Mukherjee, Malini, Tesi, Bianca, Schrempf, Anna, Pickl, Winfried F., Loizou, Joanna I., Kain, Renate, Bidmon-Fliegenschnee, Bettina, Schickel, Jean-Nicolas, Glauzy, Salomé, Huemer, Jakob, Garncarz, Wojciech, Salzer, Elisabeth, Pierides, Iro, Bilic, Ivan, Thiel, Jens, Priftakis, Peter, Banerjee, Pinaki P., Förster-Waldl, Elisabeth, Medgyesi, David, Huber, Wolf-Dietrich, Orange, Jordan S., Meffre, Eric, Sansom, David M., Bryceson, Yenan T., Altman, Amnon, Boztug, Kaan
Published in Nature communications (15.07.2019)
Published in Nature communications (15.07.2019)
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Publisher Correction: Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
Serwas, Nina K., Hoeger, Birgit, Ardy, Rico C., Stulz, Sigrun V., Sui, Zhenhua, Memaran, Nima, Meeths, Marie, Krolo, Ana, Petronczki, Özlem Yüce, Pfajfer, Laurène, Hou, Tie Z., Halliday, Neil, Santos-Valente, Elisangela, Kalinichenko, Artem, Kennedy, Alan, Mace, Emily M., Mukherjee, Malini, Tesi, Bianca, Schrempf, Anna, Pickl, Winfried F., Loizou, Joanna I., Kain, Renate, Bidmon-Fliegenschnee, Bettina, Schickel, Jean-Nicolas, Glauzy, Salomé, Huemer, Jakob, Garncarz, Wojciech, Salzer, Elisabeth, Pierides, Iro, Bilic, Ivan, Thiel, Jens, Priftakis, Peter, Banerjee, Pinaki P., Förster-Waldl, Elisabeth, Medgyesi, David, Huber, Wolf-Dietrich, Orange, Jordan S., Meffre, Eric, Sansom, David M., Bryceson, Yenan T., Altman, Amnon, Boztug, Kaan
Published in Nature communications (02.10.2019)
Published in Nature communications (02.10.2019)
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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis
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Published in The New England journal of medicine (06.07.2017)
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Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency
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Published in The New England journal of medicine (10.08.2023)
Published in The New England journal of medicine (10.08.2023)
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Mechanism of antisteatogenous action of trypsin
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Published in Bollettino della Societa italiana di biologia sperimentale (01.11.1950)
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Published in Bollettino della Societa italiana di biologia sperimentale (01.11.1950)
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Effect of methionine on steatosis of the liver in regeneration
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Published in Bollettino della Societa italiana di biologia sperimentale (01.07.1950)
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Published in Bollettino della Societa italiana di biologia sperimentale (01.07.1950)
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Published in Bollettino della Societa italiana di biologia sperimentale (01.07.1950)
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Published in Bollettino della Societa italiana di biologia sperimentale (01.07.1950)
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P842 Aberrant lipid metabolism in patients with DGAT1 deficiency
van Rijn, J M, Ardy, R C, Kansu, A, Härter, B, van Haaften–Visser, D Y, Ng, M, Kuloğlu, Z, Başaran, M K, Ozcay, F, van der Doef, H, Coffer, P J, Müller, T, Houwen, R H, van Haaften, G, Janecke, A R, Middendorp, S, Boztug, K
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