Associated Papers
Monogenic disorders of the IRF transcription factors.
Stojcic MP et al.
The Journal of Experimental Medicine, 2026
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 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
IRF8-mutant B cell lymphoma evades immunity through a CD74-dependent deregulation of antigen processing and presentation in MHCII complexes.
Qiu Z et al.
Science Advances, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
Khavandegar A et al.
The Journal of Allergy and Clinical Immunology, 2024
Murine IRF8 Mutation Offers New Insight into Osteoclast and Root Resorption.
Das A et al.
Journal of Dental Research, 2024
IRF8-mutant B cell lymphoma evades immunity through a CD74-dependent deregulation of antigen processing and presentation in MHC CII complexes.
Qiu Z et al.
Biorxiv : the Preprint Server for Biology, 2023
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 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
Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery.
Zhou T et al.
Nature Communications, 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
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.
Waller RG et al.
Human Molecular Genetics, 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
Modelling IRF8 Deficient Human Hematopoiesis and Dendritic Cell Development with Engineered iPS Cells.
Sontag S et al.
Stem Cells (dayton, Ohio), 2017
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
Dendritic cell analysis in primary immunodeficiency.
Bigley V et al.
Current Opinion in Allergy and Clinical Immunology, 2016
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Bustamante J et al.
Seminars in Immunology, 2014
Host genetic factors in susceptibility to mycobacterial disease.
Duncan CJ et al.
Clinical Medicine (london, England), 2014
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation.
Salem S et al.
Blood, 2014
Nontuberculous mycobacterial infections in children with inborn errors of the immune system.
Haverkamp MH et al.
The Journal of Infection, 2014
Genetic determinants of susceptibility to Mycobacterial infections: IRF8, a new kid on the block.
Salem S et al.
Advances in Experimental Medicine and Biology, 2013
Bacillus Calmette-Guérin (BCG) complications associated with primary immunodeficiency diseases.
Norouzi S et al.
The Journal of Infection, 2012
Immune defects in active mycobacterial diseases in patients with primary immunodeficiency diseases (PIDs).
Lee WI et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2011
Human dendritic cell deficiency: the missing ID?
Collin M et al.
Nature Reviews. Immunology, 2011
IRF8 mutations and human dendritic-cell immunodeficiency.
Hambleton S et al.
The New England Journal of Medicine, 2011