Citations for
1DEF6, IMD87
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity
Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S.
J Allergy Clin Immunol. Feb;147(2):740-743.e9. doi: 10.1016/j.jaci.2020.05.052. Epub 2020 Jun 17. 2021
2DEF6, IMD87
Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasisv
Serwas NK, Hoeger B, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Yüce Petronczki Ö, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K.
Nat Commun. Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x. Erratum in: Nat Commun. 2019 Oct 2;10(1):4555. 2019