Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.R183H
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IKZF1

NM_006060.6:p.R183H

Associated Papers

Tumefactive Demyelination in a Child With IKZF1 Gain-of-Function Variant.

Vuong T et al.

Pediatric Neurology, 2026

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

Stoddard J et al.

Jci Insight, 2025

IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.

Tedesco L et al.

Allergy, 2025

IKZF1 and Ikaros Overexpression Results in Alopecia Areata-Like Phenotype in Mice.

Arakawa Y et al.

Experimental Dermatology, 2025

IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant.

García-Solís B et al.

The Journal of Allergy and Clinical Immunology, 2024

Rare genetic variants provide a mechanistic basis for immune imbalance in IgG4-related disease.

Ciavatta DJ

The Journal of Clinical Investigation, 2024

Loss-of-phosphorylation of IKZF1 results in gain-of-function associated with immune dysregulation.

Hoshino A et al.

The Journal of Allergy and Clinical Immunology, 2024

IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease.

Liu Q et al.

The Journal of Clinical Investigation, 2024

IKAROS gain of function disease: Allogeneic hematopoietic cell transplantation experience and expanded clinical phenotypes.

Klangkalya N et al.

Clinical Immunology (orlando, Fla.), 2024

Pediatric Necrobiotic Xanthogranuloma as a Novel Phenotype of IKAROS Gain of Function.

Guess R et al.

Journal of Clinical Immunology, 2023

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

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Hadjadj J et al.

Blood, 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."