Associated Papers
IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.
Spivak I et al.
Pediatric Blood & Cancer, 2026
Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.
Voss RK et al.
Leukemia, 2025
Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.
Krizkova J et al.
Leukemia, 2025
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H et al.
Haematologica, 2024
Multifaceted roles of IKZF1 gene, perspectives from bench to bedside.
Feng L et al.
Frontiers in Oncology, 2024
Genetics and clinical phenotypes in common variable immunodeficiency.
Cunningham-Rundles C et al.
Frontiers in Genetics, 2023
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
Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.
Fornerod M et al.
Blood Cancer Discovery, 2021
Inborn errors of IKAROS and AIOLOS.
Yamashita M et al.
Current Opinion in Immunology, 2021
Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.
Merati G et al.
Frontiers in Oncology, 2021
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.
Hoshino A et al.
Frontiers in Immunology, 2021
Routine next generation sequencing of lymphoid malignancies: clinical utility and challenges from a 3-Year practical experience.
Pillonel V et al.
Leukemia & Lymphoma, 2020
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A et al.
Genome Medicine, 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
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
The effect of age at exposure on the inactivating mechanisms and relative contributions of key tumor suppressor genes in radiation-induced mouse T-cell lymphomas.
Sunaoshi M et al.
Mutation Research, 2015
B-cell Deficiency: A De Novo IKZF1 Patient and Review of the Literature.
Chen QY et al.
Journal of Investigational Allergology & Clinical Immunology, 0