Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R162L
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IKZF1

NM_006060.6:p.R162L

Associated Papers

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura.

Spivak I et al.

Pediatric Blood & Cancer, 2026

IKAROS regulates human T cell phenotype at a thymic and postthymic level.

Stoddard J et al.

Jci Insight, 2025

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

Identification and Validation of Ikaros (IKZF1) as a Cancer Driver Gene for Marek's Disease Virus-Induced Lymphomas.

Steep A et al.

Microorganisms, 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

Inborn errors of IKAROS and AIOLOS.

Yamashita M et al.

Current Opinion in Immunology, 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

35087518 (PubMed )
Supplement: DataSheet_1.docx

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

29867916 (PubMed )
Supplement: data_sheet_1.PDF

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."