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UnknownHuman determinants of age-dependent patterns of death from infection.
Not available
S-EPMC11345826 | biostudies-literature
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 
UnknownMultibatch Cytometry Data Integration for Optimal Immunophenotyping.
Not available
S-EPMC7855665 | biostudies-literature
UnknownHuman iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection.
Not available
S-EPMC6140487 | biostudies-literature
UnknownNegative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.
Not available
S-EPMC7826345 | biostudies-literature
UnknownMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.
Not available
S-EPMC4357480 | biostudies-literature
UnknownLow Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality.
Not available
S-EPMC8893354 | biostudies-literature
UnknownBlacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.
Not available
S-EPMC6338851 | biostudies-literature
UnknownHuman Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants.
Not available
S-EPMC10879986 | biostudies-literature
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