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Project Title
Deciphering the mechanisms of disease and therapeutic targets for proteasome maturation protein (pomp) related autoinflammation and immune dysregulation
Partner Organisations
Internal ID
11181222
Principal Investigator
Start Date
2018
Views
15
Acquisition Date
Nov 13, 2024
Nov 13, 2024
13 results
Now showing
1 - 10 of 13
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PublicationFirst Report of Tocilizumab Use in a Cohort of Latin American Patients Hospitalized for Severe COVID-19 Pneumonia( 2020)
Scopus© Citations 4 9 1 -
PublicationProtein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24( 2022)
Scopus© Citations 23 25 -
PublicationHSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease( 2021)
Scopus© Citations 14 6 -
PublicationPrevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis( 2021)
Scopus© Citations 9 20 -
PublicationDeep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort( 2022)
Scopus© Citations 10 49 -
PublicationImmune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature( 2021)
Scopus© Citations 9 2 -
PublicationHEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease( 2020)
Scopus© Citations 60 10 -
PublicationNovel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome( 2019)
Scopus© Citations 18 4 -
PublicationRefractory systemic juvenile idiopathic arthritis successfully treated with rapamycin( 2021)
Scopus© Citations 3 -
PublicationImmunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19( 2022)
Scopus© Citations 127 9