Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R143W
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IKZF1

NM_006060.6:p.R143W

Associated Papers

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L et al.

Blood Cancer Journal, 2025

40664679 (PubMed )
Supplement: 41408_2025_1309_MOESM8_ESM.xlsx › Sheet1

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Gök V et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Inborn errors of human IKAROS: LOF and GOF variants associated with primary immunodeficiency.

Kuehn HS et al.

Clinical and Experimental Immunology, 2023

Clinical and Immunologic Characteristics of Non-Hematologic Cancers in Patients with Inborn Errors of Immunity.

Delavari S et al.

Cancers, 2023

ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.

Schönfeld L et al.

Leukemia, 2022

35902731 (PubMed )
Supplement: 41375_2022_1648_MOESM1_ESM.xlsx › Clinical_data

Mutational Analysis of the VPREB1 Gene of Pre-BCR Complex in a Cohort of Sporadic Pediatric Patients With B-Cell Acute Lymphoblastic Leukemia.

Naji P et al.

Journal of Pediatric Hematology/oncology, 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

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

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

Yilmaz E et al.

Journal of Pediatric Hematology/oncology, 2021

Germline IKZF1 mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.

Kuehn HS et al.

Expert Review of Clinical Immunology, 2021

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

Kuehn HS et al.

Blood, 2021

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

Hoshino A et al.

Frontiers in Immunology, 2021

The specific distribution pattern of IKZF1 mutation in acute myeloid leukemia.

Zhang X et al.

Journal of Hematology & Oncology, 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

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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."