Associated Papers
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
Murine IRF8 Mutation Offers New Insight into Osteoclast and Root Resorption.
Das A et al.
Journal of Dental Research, 2024
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
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
Role of IRF8 in immune cells functions, protection against infections, and susceptibility to inflammatory diseases.
Salem S et al.
Human Genetics, 2020
Recent human genetic errors of innate immunity leading to increased susceptibility to infection.
Moens L et al.
Current Opinion in Immunology, 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 IRF8 Mutations Causing NK Cell Deficiency.
López-Soto A et al.
Trends in Molecular Medicine, 2017
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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