Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.N159T
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IKZF1

NM_006060.6:p.N159T

Associated Papers

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

Stoddard J et al.

Jci Insight, 2025

The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML.

Stasik S et al.

British Journal of Haematology, 2025

Transcriptomic classes of BCR-ABL1 lymphoblastic leukemia.

Kim JC et al.

Nature 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

Inborn errors of IKAROS and AIOLOS.

Yamashita M et al.

Current Opinion in Immunology, 2021

Emerging molecular subtypes and therapeutic targets in B-cell precursor acute lymphoblastic leukemia.

Li J et al.

Frontiers of Medicine, 2021

Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.

Yilmaz E et al.

Journal of Pediatric Hematology/oncology, 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

Ikaros-Associated Diseases: From Mice to Humans and Back Again.

Boast B et al.

Frontiers in Pediatrics, 2021

Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study.

Hoshino A et al.

Frontiers in Immunology, 2021

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

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST7
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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."