Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

Immune responses need to be controlled tightly to prevent autoimmune diseases, yet underlying molecular mechanisms remain partially understood. Here, we identify biallelic mutations in three patients from two unrelated families in differentially expressed in FDCP6 homolog (DEF6) as the molecular cau...

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Publicado en:Nat Commun
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group UK 2019
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6629652/
https://ncbi.nlm.nih.gov/pubmed/31308374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-10812-x
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