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STK4 deficiency underlies impaired interferon signaling and T cell immunity

ABSTRACT: STK4 deficiency underlies impaired interferon signaling and T cell immunity

PROVIDER: PRJNA702820 | ENA |

REPOSITORIES: ENA

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STK4 deficiency underlies impaired interferon signaling and T cell immunity

Project description:We investigated transcriptional responses following in vitro stimulation of peripheral blood mononuclear cells (PBMCs) obtained from a patient with inherited STK4 deficiency. Samples from the heterozygous parents and unrelated healthy donors with a wild-type genotype were analyzed for comparison.

2021-08-30 | GSE166761 | GEO

Inherited BCL10 deficiency with impaired hematopoietic and non-hematopoietic immunity

Project description:Inherited BCL10 deficiency with impaired hematopoietic and non-hematopoietic immunity

| PRJEB7383 | ENA

Impaired interferon-γ signaling promotes the development of silicosis

Project description:Silicosis is caused by inhalation of crystalline silica dust particles and known as one of the most serious occupational diseases worldwide. However, little is known about intrinsic factors leading to disease susceptibility. Using single-cell sequencing of bronchoalveolar lavage fluid (BALF) of mine workers with silicosis and their co-workers who did not develop silicosis, we found that the impaired interferon (IFN)-γ signaling in myeloid cells was strongly associated with the occurrence of silicosis. In a murine model of silicosis, global or myeloid cell-specific deletion of interferon γ receptor (IFN-γR) markedly enhanced the silica crystals-induced pulmonary interstitial fibrosis and respiratory dysfunction in wild-type but not in mutant mice deficient in NOD-like receptor family pyrin domain-containing 3 (NLRP3). In vitro, IFN-γ priming of macrophages suppressed the crystalline silica-induced NLRP3 inflammasome activation partly by inducing the formation of spacious phagosomes with relatively reduced ratio of crystalline silica/phagosomal areas/volumes through the RAB20-dependent membrane trafficking pathway. RAB20 deficiency was associated with the elevated susceptibility to silicosis as well as the elevated NLRP3 inflammasome activation in a manner similar to the impaired IFN-γ signaling. Thus, these findings provide novel molecular insights into the intricate mechanisms underlying innate immunity-mediated host responses to environmental irritants, and shed light on the future development of novel therapies for the prevention of silicosis.

2022-05-19 | GSE174725 | GEO

Impaired reorganization of centrosome structure underlies human congenital dilated cardiomyopathy

Project description:Impaired reorganization of centrosome structure underlies human congenital dilated cardiomyopathy

| PRJNA767002 | ENA

Impaired interferon-γ signaling promotes the development of silicosis

Project description:Impaired interferon-γ signaling promotes the development of silicosis

| PRJNA731230 | ENA

Inherited human c-REL deficiency disrupts adaptive immunity

Project description:Inherited human c-REL deficiency disrupts adaptive immunity

| PRJNA703721 | ENA

Expression data from primary human dermal fibroblasts with STAT2 deficiency and control fibroblasts treated with interferon

Project description:Primary human dermal fibroblasts were isolated from an individual showing a genetic defect in innate antiviral immunity associated with profound failure of type 1 interferon signaling and absence of the STAT2 protein. The transcriptional response of these cells to a 10h treatment with interferon-alpha was compared with that of control dermal fibroblasts. We used microarrays to detail the global program of gene expression resulting from interferon-alpha treatment in STAT 2 deficient and control fibroblasts. Primary human dermal fibroblasts were grown in the presence or absence of 1,000U/ml interferon-alpha (IFNa) for 10 hours before RNA extraction and hybridization on Affymetrix microarrays.

2013-03-05 | E-GEOD-41960 | biostudies-arrayexpress

Rhinovirus Susceptibility in Human MDA5 Deficiency

Project description:<p>We studied a child with life-threatening and recurrent respiratory tract infections, caused by multiple viruses including rhinovirus, influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5 by Whole Exome Sequencing. MDA5-deficiency is a novel inborn error of innate immunity that results in impaired dsRNA-sensing, reduced IFN induction, and susceptibility to the common cold virus.</p>

| phs001235 | dbGaP

Interferon Regulatory Factor 8 (IRF8) Deficiency Promotes Osteoclast Transcriptional Program

Project description:Interferon Regulatory Factor 8 (IRF8) Deficiency Promotes Osteoclast Transcriptional Program

| PRJNA475210 | ENA

PRMT1 inhibition activates the interferon pathway to potentiate antitumor immunity and enhance checkpoint blockade efficacy in melanoma

Project description:Despite the immense success of immune checkpoint blockade (ICB) in cancer treatment, many tumors, including melanoma, exhibit innate or adaptive resistance. Tumor-intrinsic T-cell deficiency and T-cell dysfunction have been identified as essential factors in the emergence of ICB resistance. Here, we found that protein arginine methyl transferase 1 (PRMT1) expression was inversely correlated with the number and activity of CD8+ T cells within melanoma specimen. PRMT1 deficiency or inhibition with DCPT1061 significantly restrained refractory melanoma growth and increased intratumoral CD8+T cells in vivo. Moreover, PRMT1 deletion in melanoma cells facilitated formation of double-stranded RNA (dsRNA) derived from endogenous retroviral elements (ERVs) and stimulated an intracellular interferon response. Mechanistically, PRMT1 deficiency repressed the expression of DNA methyltransferase 1 (DNMT1) by attenuating modification of H4R3me2a and H3K27ac at enhancer regions of DNMT1, and DNMT1 downregulation consequently activated ERV transcription and the interferon signaling. Importantly, PRMT1 inhibition with DCPT1061 synergized with PD-1 blockade to suppress tumor progression and increase the proportion of CD8+T cells as well as IFNγ+CD8+T cells in vivo. Together, these results reveal an unrecognized role and mechanism of PRMT1 in regulating antitumor T-cell immunity, suggesting PRMT1 inhibition as a potent strategy to increase the efficacy of ICB.

2023-11-07 | GSE240258 | GEO

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