Published in
American Association for the Advancement of Science, Science Immunology, 65(6), 2021
DOI: 10.1126/sciimmunol.abe3981
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Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity
Journal article published in 2021 by
Tala Shahin 
,
Hye Sun Kuehn,
Mohamed R. Shoeb,
Lisa Gawriyski ,
Sarah Giuliani ,
Peter Repiscak ,
Birgit Hoeger ,
Özlem Yüce Petronczki,
Sevgi Köstel Bal ,
Samaneh Zoghi ,
Jasmin Dmytrus,
Davide Seruggia ,
Irinka Castanon ,
Nima Rezaei ,
Markku Varjosalo
and other authors.
,
Hye Sun Kuehn,
Mohamed R. Shoeb,
Lisa Gawriyski ,
Sarah Giuliani ,
Peter Repiscak ,
Birgit Hoeger ,
Özlem Yüce Petronczki,
Sevgi Köstel Bal ,
Samaneh Zoghi ,
Jasmin Dmytrus,
Davide Seruggia ,
Irinka Castanon ,
Nima Rezaei ,
Markku Varjosalo
and other authors.
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Abstract
A homozygous mutation in IKZF2 disrupts the interactions of Helios with epigenetic remodelers, leading to impaired T cell activation.