Open AccessP1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTING THE TRANSCRIPTION FACTOR HELIOS CAUSE PLEIOTROPIC DEFECTS OF IMMUNITY
Author(s) -
Mayr D.,
Shahin T.,
Shoeb M.,
Kuehn H. S.,
Hoeger B.,
Giuliani S.,
Gawriyski L.,
Yüce Petronczki Ö.,
Hadjadj J.,
Köstel Bal S.,
Zoghi S.,
Haimel M.,
Jimenez Heredia R.,
Boutboul D.,
Triebwasser M.,
RiallandBattisti F.,
Tangye S.,
Fleisher T.,
Rezaei N.,
Romberg N.,
Latour S.,
Varjosalo M.,
Halbritter F.,
RieuxLaucat F.,
Casta I.,
Rosenzweig S.,
Boztug K.
Publication year - 2022
Publication title -
hemasphere
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 11
ISSN - 2572-9241
DOI - 10.1097/01.hs9.0000848492.66300.97
Subject(s) - biology , germline , germline mutation , immune dysregulation , missense mutation , primary immunodeficiency , immunology , exome sequencing , genetics , mutation , immune system , gene