Associated Papers
IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.
Spivak I et al.
Pediatric Blood & Cancer, 2026
JAK inhibitor ameliorates inflammatory bowel disease in a patient with IKZF1 haploinsufficiency.
Inoue S et al.
Clinical Immunology (orlando, Fla.), 2025
Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation.
Hoshino A et al.
The Journal of Allergy and Clinical Immunology, 2024
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.
Díaz-Alberola I et al.
Journal of Clinical Medicine, 2022
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
Inborn errors of IKAROS and AIOLOS.
Yamashita M et al.
Current Opinion in Immunology, 2021
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Kuehn HS et al.
Blood, 2021
IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.
Kuehn HS et al.
Journal of Clinical Immunology, 2021
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A et al.
Frontiers in Immunology, 2021
Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.
Jiang L et al.
American Journal of Cancer Research, 2020
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
Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.
Boutboul D et al.
The Journal of Clinical Investigation, 2018
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans.
Cytlak U et al.
Nature Communications, 2018
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
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in Immunology, 2018
Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.
Vesely C et al.
Leukemia, 2017
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.
Hoshino A et al.
The Journal of Allergy and Clinical Immunology, 2017
Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.
Li J et al.
Biochimica Et Biophysica Acta, 2016
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn HS et al.
The New England Journal of Medicine, 2016
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature.
Chen QY et al.
Journal of Investigational Allergology & Clinical Immunology, 0