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UnknownHigh prevalence of human papillomavirus infection in HIV-infected women living in French Antilles and French Guiana.
Not available
S-EPMC6726368 | biostudies-literature
TranscriptomicsComplete TLR3 deficiency
The objective of this study is to study the Toll-like receptor 3 (TLR3)-dependent gene expression in human fibroblast cells and peripheral blood mononuclear cells (PBMCs) Fibroblast cells and PBMCs from donors with autosomal recessive (AR) complete TLR3 deficiency and autosomal dominant (AD) partial...
ORGANISM(S): Homo sapiens 
2011-11-02 | E-GEOD-30951 | biostudies-arrayexpress
TranscriptomicsIn vitro responses of fibroblasts from patients with TBK1 deficiency after TLR3 dependent and independent stimuli
We report here two unrelated HSE patients carrying different heterozygous mutations (D50A and G159A) in TBK1, the gene encoding TANK-binding kinase 1, a kinase at the crossroads of multiple IFN-inducing signaling pathways. Both mutant TBK1 alleles are loss-of-function, but through different mechanis...
ORGANISM(S): Homo sapiens 
2012-07-29 | E-GEOD-38652 | biostudies-arrayexpress
ProteomicsLarge-scale proteome and ubiquitination landscape of patients with OTULIN haploinsufficiency Part1 of 3
The molecular basis of interindividual clinical variability upon infection with Staphylococcus aureus is unclear. We describe patients with haploinsufficiency for the linear deubiquitinase OTULIN, encoded on chromosome 5p. The patients suffer from episodes of life-threatening necrosis, typically tri...
ORGANISM(S): Homo sapiens (Human) 
2022-06-13 | PXD032727 | Pride
Lc-msms Tmt Otulin Ubiquitin 
ProteomicsIRF1 mass-spectrometry primary fibroblasts non-stimulated or stimulated with IFNg for 24h
Inborn errors of human IFN-γ immunity underlie mycobacterial diseases, whereas inborn errors of IFN-a/b immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describe two unrelated children with inherited complete IRF1 deficiency and early-onset, multiple, lif...
ORGANISM(S): Homo sapiens (Human) 
2023-01-19 | PXD037759 | Pride
Fibroblasts Ifng Lc-ms 
TranscriptomicsResponse of IRF7-deficient peripheral blood mononuclear cells to pH1N1 influenza virus infection
IRF7 plays a critical role in the production and amplification of the antiviral type I and III interferon response. Autosomal recessive IRF7-deficiency resulted in life-threatening influenza disease in a 3-year-old child. We studied the impact of IRF7-deficiency in non-hematopoietic tissues (fibrobl...
ORGANISM(S): Homo sapiens 
2015-04-07 | E-GEOD-66486 | biostudies-arrayexpress
GenomicsThe immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
The immunopathological landscape of human pre-TCRα deficiency: from rare to common variants
PRJNA1020588 | ENA
TranscriptomicsIn vitro responses of PBMC and fibroblasts from patients with TRIF deficiency after TRIF dependent and independent stimuli
We report here unrelated HSE patients with autosomal recessive (AR) or autosomal dominant (AD) TRIF deficiency. The AR form of the disease is due to a homozygous nonsense mutation, resulting in a complete absence of the TRIF protein. Both the TLR3 and the TRIF-dependent TLR4 signaling pathways are a...
ORGANISM(S): Homo sapiens 
2011-10-19 | E-GEOD-32390 | biostudies-arrayexpress
UnknownIntegrating artificial intelligence into lung cancer screening: a randomised controlled trial protocol.
Not available
S-EPMC10868245 | biostudies-literature
UnknownA common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Not available
S-EPMC11648951 | biostudies-literature
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