Associated Papers
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
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
31133068 (PubMed )
Supplement: 13073_2019_644_MOESM3_ESM.xlsx › Table_S8
IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid Syndrome.
Dieudonné Y et al.
Journal of Clinical Immunology, 2019
Assessing the Functional Relevance of Variants in the IKAROS Family Zinc Finger Protein 1 (IKZF1) in a Cohort of Patients With Primary Immunodeficiency.
Eskandarian Z et al.
Frontiers in Immunology, 2019
Familial Immune Thrombocytopenia Associated With a Novel Variant in IKZF1.
Sriaroon P et al.
Frontiers in Pediatrics, 2019
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.
Bogaert DJ et al.
The Journal of Allergy and Clinical Immunology, 2018
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.
Hoshino A et al.
The Journal of Allergy and Clinical Immunology, 2017
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature.
Chen QY et al.
Journal of Investigational Allergology & Clinical Immunology, 0
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