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
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
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
Targeted Mutational Profiling Reveals Clonal Relationships in Metachronous Occurrence of Classic Hodgkin and Mediastinal Large B-Cell Lymphomas.
Singh K et al.
The American Journal of Surgical Pathology, 2023
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
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.
Waller RG et al.
Human Molecular Genetics, 2021
Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.
Argyropoulos KV et al.
Blood Cancer Journal, 2020
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
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA et al.
Nature Genetics, 2011