Varaico: Literature-Extracted Genetic Variants

Gene:IRF8
Variant:p.I27N
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IRF8

NM_002163.4:p.I27N

Associated Papers

Monogenic disorders of the IRF transcription factors.

Stojcic MP et al.

The Journal of Experimental Medicine, 2026

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Integrating genomic and transcriptome features for characterization and prognostic prediction of angioimmunoblastic T-cell lymphoma.

Wei C et al.

Annals of Hematology, 2025

40906017 (PubMed )
Supplement: 277_2025_6589_MOESM3_ESM.xlsx › Sheet1

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

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

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S4

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

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

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

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

38996030 (PubMed )
Supplement: sciadv.adk2091_sm.pdf

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

Transcription-independent regulation of STING activation and innate immune responses by IRF8 in monocytes.

Luo WW et al.

Nature Communications, 2022

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

MAPK and JAK-STAT pathways dysregulation in plasmablastic lymphoma.

Ramis-Zaldivar JE et al.

Haematologica, 2021

33951889 (PubMed )
Supplement: 2020_271957_RAMIS-ZALDIVAR_SUPPL_TableS5.xlsx › 194_Mutations

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

Treating primary immunodeficiencies with defects in NK cells: from stem cell therapy to gene editing.

Eguizabal C et al.

Stem Cell Research & Therapy, 2020

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

Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Karube K et al.

Leukemia, 2018

28804123 (PubMed )
Supplement: leu2017251x2.xlsx › Table_S15

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

Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.

Lilljebjörn H et al.

Nature Communications, 2016

27265895 (PubMed )
Supplement: ncomms11790-s8.xlsx › Supp._Data_7

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

Innate defects of the IL-12/IFN-γ axis in susceptibility to infections by mycobacteria and salmonella.

Ramirez-Alejo N et al.

Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2014

Nontuberculous mycobacterial infections in children with inborn errors of the immune system.

Haverkamp MH et al.

The Journal of Infection, 2014

High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias.

Waterfall JJ et al.

Nature Genetics, 2014

24241536 (PubMed )
Supplement: NIHMS533714-supplement-2.xls › allNovelNotinCleanNormalsProtAl

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

Progress in multiple sclerosis genetics.

Goris A et al.

Current Genomics, 2012

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

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