Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.R83C
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IRF8

NM_002163.4:p.R83C

Associated Papers

Monogenic disorders of the IRF transcription factors.

Stojcic MP et al.

The Journal of Experimental Medicine, 2026

A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.

Ham H et al.

The Journal of Allergy and Clinical Immunology, 2025

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization.

Chiang SCC et al.

Frontiers in Immunology, 2025

Murine IRF8 Mutation Offers New Insight into Osteoclast and Root Resorption.

Das A et al.

Journal of Dental Research, 2024

Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

Rosain J et al.

Journal of Clinical Immunology, 2022

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans.

Cytlak U et al.

Immunity, 2020

Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases.

Salem S et al.

Human Genetics, 2020

Inactivating Mutation in IRF8 Promotes Osteoclast Transcriptional Programs and Increases Susceptibility to Tooth Root Resorption.

Thumbigere-Math V et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.

Bigley V et al.

The Journal of Allergy and Clinical Immunology, 2018

Biallelic mutations in IRF8 impair human NK cell maturation and function.

Mace EM et al.

The Journal of Clinical Investigation, 2017

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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."