Associated Papers
H195Y mutation of IKZF3 identified in a mouse model of precursor B cell acute lymphoblastic leukemia impairs transcriptional repression activity and increases protein stability.
Rysan H et al.
Journal of Leukocyte Biology, 2026
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
Hoshino A et al.
Science Immunology, 2022
Case Report: A Highly Variable Clinical and Immunological Presentation of IKAROS Deficiency in a Single Family.
Kuijpers TW et al.
Frontiers in Immunology, 2022
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Kuehn HS et al.
Blood, 2021
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A et al.
Frontiers in Immunology, 2021
35087518 (PubMed )
Supplement: DataSheet_1.docx
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome.
Dieudonné Y et al.
Journal of Clinical Immunology, 2019
Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.
Sriaroon P et al.
Frontiers in Pediatrics, 2019
2017 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2017
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