IRF8, interferon regulatory factor 8, 3394

N. diseases: 149; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A
0.700 GermlineCausalMutation disease ORPHANET
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A
0.700 CausalMutation disease CLINVAR
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B
0.700 CausalMutation disease CLINVAR
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.320 CausalMutation disease CGI
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.400 AlteredExpression disease BEFREE We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS. 19525953 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.400 AlteredExpression disease BEFREE In summary, IRF8 rs17445836G is associated with human autoimmune disease characterized by low-type I IFN levels, and this may have pharmacogenetic relevance as type I IFN is modulated in SLE and MS. 23965942 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.320 AlteredExpression disease BEFREE Overall, we demonstrated that (a) Irf8-deficient mice generated myeloid populations highly homologous to tumor-induced MDSCs with respect to phenotype, function, and gene expression profiles; (b) IRF-8 overexpression in mice attenuated MDSC accumulation and enhanced immunotherapeutic efficacy; (c) the MDSC-inducing factors G-CSF and GM-CSF facilitated IRF-8 downregulation via STAT3- and STAT5-dependent pathways; and (d) IRF-8 levels in MDSCs of breast cancer patients declined with increasing MDSC frequency, implicating IRF-8 as a negative regulator in human MDSC biology. 24091328 2013
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
0.320 AlteredExpression disease BEFREE Subsequent screening for IRF8 by immunohistochemistry revealed IRF8 expression in 18/78 (23%), correlating with a germinal center B-cell-like (GCB) type of DLBCL. 23573829 2014
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE Remarkably, the evolution of Alox15 MPD to leukemia is associated with additional regulation of ICSBP on an RNA level, highlighting the potential usefulness of the Alox15 model for understanding the transition of CML to crisis. 17043146 2006
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE Decreased ICSBP expression is found in human AML and chronic myeloid leukemia during blast crisis (CML-BC). 19801548 2009
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE Since the expression of both the IRF8 and IRF4 genes is downregulated in CML patients, these results may add to our understanding of CML pathogenesis. 22003407 2011
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE More detailed analysis showed an absence of ICSBP-mRNA also in sorted B cells derived from CML patients. 9414265 1998
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE We demonstrate a significant correlation between the levels of IRF-8 and PML in these CML patients. 17189268 2007
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE Interestingly, coexpression of ICSBP and Bcr-Abl induced a transient B-lymphoproliferative disorder in the murine model of Bcr-Abl-induced CML-like disease. 10648600 2000
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.100 AlteredExpression disease BEFREE BCR-ABL-induced suppression of the transcription factor interferon regulatory factor 8 was previously proposed to block pDC development and compromise immune surveillance in CML. 30166420 2018
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 AlteredExpression disease BEFREE In summary, IRF8 rs17445836G is associated with human autoimmune disease characterized by low-type I IFN levels, and this may have pharmacogenetic relevance as type I IFN is modulated in SLE and MS. 23965942 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE However, the impact of IRF8 expression on tumor growth could not be explained solely by its effects on regulating apoptotic response. 26008967 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE In addition, we found a positive correlation between ICSBP and TGF-β RI expression in several types of tumors using the cBioportal database. 30710564 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE In this study, we showed that: 1) tumor growth was associated with a selective expansion of newly defined IRF8<sup>lo</sup> granulocyte progenitors (GPs); 2) tumor-derived GPs had an increased ability to form PMN-MDSCs; 3) tumor-derived GPs shared gene expression patterns with IRF8<sup>-/-</sup> GPs, suggesting that IRF8 loss underlies GP expansion; and 4) enforced IRF8 overexpression in vivo selectively constrained tumor-induced GP expansion. 28356386 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE This screen identified a proviral integration that disrupts expression of the Interferon consensus sequence binding protein (ICSBP) tumor suppressor gene. 16939812 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Together, our results reveal a previously unrecognized role for IRF-8 expression in MDSC subset development, which may provide new avenues to target MDSCs in neoplasia. 24091328 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Tumor-associated macrophage expression of interferon regulatory Factor-8 (IRF8) is a predictor of progression and patient survival in renal cell carcinoma. 31221219 2019
CUI: C0023418
Disease: leukemia
leukemia
0.080 AlteredExpression disease BEFREE When analyzed in four leukemia mRNA expression data sets, WT1 and IRF8 were anticorrelated. 20237505 2010
CUI: C0023418
Disease: leukemia
leukemia
0.080 AlteredExpression disease BEFREE The leukemia-associated fusion protein Tel-platelet-derived growth factor receptor β (Tel-PdgfRβ) inhibits transcriptional repression of PTPN13 gene by interferon consensus sequence binding protein (Icsbp). 22262849 2012
CUI: C0023418
Disease: leukemia
leukemia
0.080 AlteredExpression disease BEFREE Remarkably, the evolution of Alox15 MPD to leukemia is associated with additional regulation of ICSBP on an RNA level, highlighting the potential usefulness of the Alox15 model for understanding the transition of CML to crisis. 17043146 2006