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ProteomicsDemonstration of a complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis
Genetic diagnosis plays a central role in the clinical management of patients with inborn errors of immunity (IEI). We proposed a novel method for diagnosing IEI using PBMC proteomics integrated with targeted RNA sequencing, providing notable insights into the pathogenesis of IEI. Data-independent a...
ORGANISM(S): Homo Sapiens (human) 
2023-11-25 | PXD038352 | JPOST Repository
GenomicsThe NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Mitochondrial Metabolism
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Mitochondrial Metabolism
PRJNA971742 | ENA
GenomicsThe NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Mitochondrial Metabolism
The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Mitochondrial Metabolism
PRJNA971743 | ENA
UnknownPathogenic P554S Variant in TLR3 in a Patient with Severe Influenza Pneumonia.
Not available
S-EPMC8609169 | biostudies-literature
UnknownThe 2024 update of IUIS phenotypic classification of human inborn errors of immunity.
Not available
S-EPMC12829316 | biostudies-literature
UnknownRecessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.
Not available
S-EPMC9206114 | biostudies-literature
UnknownLessons learned from the study of human inborn errors of innate immunity.
Not available
S-EPMC6358521 | biostudies-literature
UnknownManagement of Inborn Errors of Immunity in the Genomic Era.
Not available
S-EPMC9366268 | biostudies-literature
UnknownMonoallelic expression can govern penetrance of inborn errors of immunity.
Not available
S-EPMC11804961 | biostudies-literature
Genomics
inborn errors of immunity lymphomas sequencing
PRJNA772081 | ENA
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