Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.L188V
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IKZF1

NM_006060.6:p.L188V

Associated Papers

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

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

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 kindred with mutant IKAROS and autoimmunity.

Van Nieuwenhove E et al.

The Journal of Allergy and Clinical Immunology, 2018

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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."