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

Nina Kathrin Serwas; Birgit Hoeger; Rico Chandra Ardy; Sigrun Stulz; Zhenhua Sui; Nima Memaran; Marie Meeths; Ana Krolo; Özlem Yüce Petronczki; Laurene Pfajfer; Tie Z Hou; Neil Halliday; Elisangela Santos-Valente; Artem Kalinichenko; Alan Kennedy; Emeliy M  Mace; Malini Mukherjee; Bianca Tesi; Anna Schrempf; Winfried F Pickl; Joanna I Loizou; Renate Kain; Bettina Bidmon-Fliegenschnee; Jean-Nicolas Schickel; Salome Glauzy; Jakob Huemer; Wojciech Garncarz; Elisabeth Salzer; Iro Pierides; Ivan Bilic; Jens Thiel; Peter Priftakis; Pinaki  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

Nina Kathrin Serwas
, Birgit Hoeger
, Rico Chandra Ardy
, Sigrun Stulz
, Zhenhua Sui
, Nima Memaran
, Marie Meeths
, Ana Krolo
, Özlem Yüce Petronczki
, Laurene Pfajfer
, Tie Z Hou
, Neil Halliday
, Elisangela Santos-Valente
, Artem Kalinichenko
, Alan Kennedy
, Emeliy M Mace
, Malini Mukherjee
, Bianca Tesi
, Anna Schrempf
, Winfried F Pickl

Joanna I Loizou, Renate Kain, Bettina Bidmon-Fliegenschnee, Jean-Nicolas Schickel, Salome Glauzy, Jakob Huemer, Wojciech Garncarz, Elisabeth Salzer, Iro Pierides, Ivan Bilic, Jens Thiel, Peter Priftakis, Pinaki Banerjee, Elisabeth Förster-Waldl, David Medgyesi, Wolf-Dietrich Huber, Jordan S Orange, Eric Meffre, David M Sansom, Yenan T Bryceson, Amnon Altman, Kaan Boztug

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Nature Communications
Volume	10
Issue number	1
Publication status	Published - 2019
Externally published	Yes

Fields of science

301902 Immunology

Cite this

Serwas, N. K., Hoeger, B., Ardy, R. C., Stulz, S., Sui, Z., Memaran, N., Meeths, M., Krolo, A., Petronczki, Ö. Y., Pfajfer, L., Hou, T. Z., Halliday, N., Santos-Valente, E., Kalinichenko, A., Kennedy, A., Mace, E. M., Mukherjee, M., Tesi, B., Schrempf, A., ... Boztug, K. (2019). Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nature Communications, 10(1).

@article{6f8ff8673d1649288e01ea0a852d19c8,

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

author = "Serwas, \{Nina Kathrin\} and Birgit Hoeger and Ardy, \{Rico Chandra\} and Sigrun Stulz and Zhenhua Sui and Nima Memaran and Marie Meeths and Ana Krolo and Petronczki, \{{\"O}zlem Y{\"u}ce\} and Laurene Pfajfer and Hou, \{Tie Z\} and Neil Halliday and Elisangela Santos-Valente and Artem Kalinichenko and Alan Kennedy and Mace, \{Emeliy M\} and Malini Mukherjee and Bianca Tesi and Anna Schrempf and Pickl, \{Winfried F\} and Loizou, \{Joanna I\} and Renate Kain and Bettina Bidmon-Fliegenschnee and Jean-Nicolas Schickel and Salome Glauzy and Jakob Huemer and Wojciech Garncarz and Elisabeth Salzer and Iro Pierides and Ivan Bilic and Jens Thiel and Peter Priftakis and Pinaki Banerjee and Elisabeth F{\"o}rster-Waldl and David Medgyesi and Wolf-Dietrich Huber and Orange, \{Jordan S\} and Eric Meffre and Sansom, \{David M\} and Bryceson, \{Yenan T\} and Amnon Altman and Kaan Boztug",

year = "2019",

language = "English",

volume = "10",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Springer Nature Limited",

number = "1",

}

Serwas, NK, Hoeger, B, Ardy, RC, Stulz, S, Sui, Z, Memaran, N, Meeths, M, Krolo, A, Petronczki, ÖY, 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, J-N, Glauzy, S, Huemer, J, Garncarz, W, Salzer, E, Pierides, I, Bilic, I, Thiel, J, Priftakis, P, Banerjee, P, Förster-Waldl, E, Medgyesi, D, Huber, W-D, Orange, JS, Meffre, E, Sansom, DM, Bryceson, YT, Altman, A & Boztug, K 2019, 'Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis', Nature Communications, vol. 10, no. 1.

TY - JOUR

T1 - Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

AU - Serwas, Nina Kathrin

AU - Hoeger, Birgit

AU - Ardy, Rico Chandra

AU - Stulz, Sigrun

AU - Sui, Zhenhua

AU - Memaran, Nima

AU - Meeths, Marie

AU - Krolo, Ana

AU - Petronczki, Özlem Yüce

AU - Pfajfer, Laurene

AU - Hou, Tie Z

AU - Halliday, Neil

AU - Santos-Valente, Elisangela

AU - Kalinichenko, Artem

AU - Kennedy, Alan

AU - Mace, Emeliy M

AU - Mukherjee, Malini

AU - Tesi, Bianca

AU - Schrempf, Anna

AU - Pickl, Winfried F

AU - Loizou, Joanna I

AU - Kain, Renate

AU - Bidmon-Fliegenschnee, Bettina

AU - Schickel, Jean-Nicolas

AU - Glauzy, Salome

AU - Huemer, Jakob

AU - Garncarz, Wojciech

AU - Salzer, Elisabeth

AU - Pierides, Iro

AU - Bilic, Ivan

AU - Thiel, Jens

AU - Priftakis, Peter

AU - Banerjee, Pinaki

AU - Förster-Waldl, Elisabeth

AU - Medgyesi, David

AU - Huber, Wolf-Dietrich

AU - Orange, Jordan S

AU - Meffre, Eric

AU - Sansom, David M

AU - Bryceson, Yenan T

AU - Altman, Amnon

AU - Boztug, Kaan

PY - 2019

Y1 - 2019

M3 - Article

SN - 2041-1723

VL - 10

JO - Nature Communications

JF - Nature Communications

IS - 1

ER -