Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.R111*
Back to variants list

IRF8

NM_002163.4:p.R111*

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

Non-Malignant Granulocyte and Monocyte Disorders: An Update.

Ahmad Hilmi SB et al.

British Journal of Biomedical Science, 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

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

Identification of a novel IRF8 homozygous mutation causing neutrophilia, monocytopenia and fatal infection in a female neonate.

Dang D et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2021

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."