Associated Papers
Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.
Alnaqbi H et al.
Scientific Reports, 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.
Kuehn HS et al.
Clinical and Experimental Immunology, 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
Inborn errors of IKAROS and AIOLOS.
Yamashita M et al.
Current Opinion in Immunology, 2021
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 Mutation.
Kuehn HS et al.
Journal of Clinical 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
IKAROS Family Zinc Finger 1-Associated Diseases in Primary Immunodeficiency Patients.
Nunes-Santos CJ et al.
Immunology and Allergy Clinics of North America, 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
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
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
de Valles-Ibáñez G et al.
Frontiers in 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
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