Thumbnail Image
Project Title
Functional genomics in autoinflammatory diseases
Partner Organisations
Internal ID
1221802
Principal Investigator
Status
VIGENTE
Start Date
2021
Investigators

Filters

Reset filters

Settings
Now showing 1 - 3 of 3
No Thumbnail Available
Publication

Proteasome disorders and inborn errors of immunity

2023 , M. Cecilia Poli

SummaryInborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the innate or adaptive immune response. To date, defects in more than 450 different genes have been identified as causes of IEI, causing a constellation of heterogeneous clinical manifestations ranging from increased susceptibility to infection, to autoimmunity or autoinflammation. IEI that are mainly characterized by autoinflammation are broadly classified according to the inflammatory pathway that they predominantly perturb. Among autoinflammatory IEI are those characterized by the transcriptional upregulation of type I interferon genes and are referred to as interferonopathies. Within the spectrum of interferonopathies, genetic defects that affect the proteasome have been described to cause autoinflammatory disease and represent a growing area of investigation. This review is focused on describing the clinical, genetic, and molecular aspects of IEI associated with mutations that affect the proteasome and how the study of these diseases has contributed to delineate therapeutic interventions.

View
No Thumbnail Available
Publication

Deep immunophenotyping reveals biomarkers of multisystemic inflammatory syndrome in children in a Latin American cohort

2022 , REY JURADO, EMMA , Yazmin Espinosa , Camila Astudillo , CORTES SALINAS, LINA JIMENA , HORMAZABAL CASTILLO, JUAN PATRICIO , Fernanda Cofré , Cecilia Piñera , Loreani P. Noguera , Ricardo González , Alexander Bataszew , MUÑOZ VENTURELLI, PAULA ANDREA , Dona Benadof , Patricia Álvarez , Valeria Acevedo , VIAL CLARO, PABLO AGUSTIN , VIAL COX, MARIA CECILIA , POLI HARLOWE, MARIA CECILIA BERTA

View
No Thumbnail Available
Publication

Inborn errors of immunity: A field without frontiers

2023 , Giorgia Bucciol , Selket Delafontaine , Isabelle Meyts , POLI HARLOWE, MARIA CECILIA BERTA

SummaryThe study of primary immunodeficiencies or inborn errors of immunity continues to drive our knowledge of the function of the human immune system. From the outset, the study of inborn errors has focused on unraveling genetic etiologies and molecular mechanisms. Aided by the continuous growth in genetic diagnostics, the field has moved from the study of an infection dominated phenotype to embrace and unravel diverse manifestations of autoinflammation, autoimmunity, malignancy, and severe allergy in all medical disciplines. It has now moved from the study of ultrarare presentations to producing meaningful impact in conditions as diverse as inflammatory bowel disease, neurological conditions, and hematology. Beyond offering immunogenetic diagnosis, the study of underlying inborn errors of immunity in these conditions points to targeted treatment which can be lifesaving.

View