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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
16
Last Week
1
1
Last Month
1
1
Acquisition Date
Nov 20, 2024
Nov 20, 2024
13 results
Now showing
1 - 10 of 13
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PublicationMulticenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19( 2022)
Scopus© Citations 11 13 -
PublicationHSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease( 2021)
Scopus© Citations 14 8 -
PublicationImmune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature( 2021)
Scopus© Citations 9 5 -
PublicationAbsent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency( 2021)
Scopus© Citations 28 6 -
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 -
PublicationAutoantibodies Against Proteins Previously Associated With Autoimmunity in Adult and Pediatric Patients With COVID-19 and Children With MIS-C( 2022)
Scopus© Citations 14 22 -
PublicationRefractory systemic juvenile idiopathic arthritis successfully treated with rapamycin( 2021)
Scopus© Citations 3 -
PublicationFirst Report of Tocilizumab Use in a Cohort of Latin American Patients Hospitalized for Severe COVID-19 Pneumonia( 2020)
Scopus© Citations 4 12 1 -
PublicationProtein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24( 2022)
Scopus© Citations 23 25 -
PublicationPrevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis( 2021)
Scopus© Citations 9 21