Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis
CTLA-4 is critical for balancing protective immunity with self-tolerance. Here the authors identify homozygous DEF6 mutations in patients with severe autoimmunity, one of which received and responds to CTLA-4-Ig, and show that DEF6 is crucial for CTLA-4 cell surface trafficking and immune regulatory...
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Nature Portfolio
2019
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oai:doaj.org-article:2b28c1d1ae924d86a02c99db5aac2d802021-12-02T15:36:07ZHuman DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis10.1038/s41467-019-10812-x2041-1723https://doaj.org/article/2b28c1d1ae924d86a02c99db5aac2d802019-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-10812-xhttps://doaj.org/toc/2041-1723CTLA-4 is critical for balancing protective immunity with self-tolerance. Here the authors identify homozygous DEF6 mutations in patients with severe autoimmunity, one of which received and responds to CTLA-4-Ig, and show that DEF6 is crucial for CTLA-4 cell surface trafficking and immune regulatory function.Nina K. SerwasBirgit HoegerRico C. ArdySigrun V. StulzZhenhua SuiNima MemaranMarie MeethsAna KroloÖzlem Yüce PetronczkiLaurène PfajferTie Z. HouNeil HallidayElisangela Santos-ValenteArtem KalinichenkoAlan KennedyEmily M. MaceMalini MukherjeeBianca TesiAnna SchrempfWinfried F. PicklJoanna I. LoizouRenate KainBettina Bidmon-FliegenschneeJean-Nicolas SchickelSalomé GlauzyJakob HuemerWojciech GarncarzElisabeth SalzerIro PieridesIvan BilicJens ThielPeter PriftakisPinaki P. BanerjeeElisabeth Förster-WaldlDavid MedgyesiWolf-Dietrich HuberJordan S. OrangeEric MeffreDavid M. SansomYenan T. BrycesonAmnon AltmanKaan BoztugNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-15 (2019) |
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DOAJ |
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EN |
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Science Q |
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Science Q Nina K. Serwas Birgit Hoeger Rico C. Ardy Sigrun V. Stulz Zhenhua Sui Nima Memaran Marie Meeths Ana Krolo Özlem Yüce Petronczki Laurène Pfajfer Tie Z. Hou Neil Halliday Elisangela Santos-Valente Artem Kalinichenko Alan Kennedy Emily M. Mace Malini Mukherjee Bianca Tesi Anna Schrempf Winfried F. Pickl Joanna I. Loizou Renate Kain Bettina Bidmon-Fliegenschnee Jean-Nicolas Schickel Salomé Glauzy Jakob Huemer Wojciech Garncarz Elisabeth Salzer Iro Pierides Ivan Bilic Jens Thiel Peter Priftakis Pinaki P. Banerjee Elisabeth Förster-Waldl David Medgyesi Wolf-Dietrich Huber Jordan S. Orange Eric Meffre David M. Sansom Yenan T. Bryceson Amnon Altman Kaan Boztug Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis |
| description |
CTLA-4 is critical for balancing protective immunity with self-tolerance. Here the authors identify homozygous DEF6 mutations in patients with severe autoimmunity, one of which received and responds to CTLA-4-Ig, and show that DEF6 is crucial for CTLA-4 cell surface trafficking and immune regulatory function. |
| format |
article |
| author |
Nina K. Serwas Birgit Hoeger Rico C. Ardy Sigrun V. Stulz Zhenhua Sui Nima Memaran Marie Meeths Ana Krolo Özlem Yüce Petronczki Laurène Pfajfer Tie Z. Hou Neil Halliday Elisangela Santos-Valente Artem Kalinichenko Alan Kennedy Emily M. Mace Malini Mukherjee Bianca Tesi Anna Schrempf Winfried F. Pickl Joanna I. Loizou Renate Kain Bettina Bidmon-Fliegenschnee Jean-Nicolas Schickel Salomé Glauzy Jakob Huemer Wojciech Garncarz Elisabeth Salzer Iro Pierides Ivan Bilic Jens Thiel Peter Priftakis Pinaki P. Banerjee Elisabeth Förster-Waldl David Medgyesi Wolf-Dietrich Huber Jordan S. Orange Eric Meffre David M. Sansom Yenan T. Bryceson Amnon Altman Kaan Boztug |
| author_facet |
Nina K. Serwas Birgit Hoeger Rico C. Ardy Sigrun V. Stulz Zhenhua Sui Nima Memaran Marie Meeths Ana Krolo Özlem Yüce Petronczki Laurène Pfajfer Tie Z. Hou Neil Halliday Elisangela Santos-Valente Artem Kalinichenko Alan Kennedy Emily M. Mace Malini Mukherjee Bianca Tesi Anna Schrempf Winfried F. Pickl Joanna I. Loizou Renate Kain Bettina Bidmon-Fliegenschnee Jean-Nicolas Schickel Salomé Glauzy Jakob Huemer Wojciech Garncarz Elisabeth Salzer Iro Pierides Ivan Bilic Jens Thiel Peter Priftakis Pinaki P. Banerjee Elisabeth Förster-Waldl David Medgyesi Wolf-Dietrich Huber Jordan S. Orange Eric Meffre David M. Sansom Yenan T. Bryceson Amnon Altman Kaan Boztug |
| author_sort |
Nina K. Serwas |
| title |
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis |
| title_short |
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis |
| title_full |
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis |
| title_fullStr |
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis |
| title_full_unstemmed |
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis |
| title_sort |
human def6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant ctla-4 homeostasis |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/2b28c1d1ae924d86a02c99db5aac2d80 |
| work_keys_str_mv |
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