Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside.
combined immunodeficiency
gain of function (GOF)
immunedysregulation
monoclonals
precision medicine
primary immunodeficiency diseases (PID)
small molecules
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2019
2019
Historique:
received:
08
05
2019
accepted:
08
08
2019
entrez:
12
9
2019
pubmed:
12
9
2019
medline:
12
9
2019
Statut:
epublish
Résumé
Inborn errors of immunity are genetic disorders with broad clinical manifestations, ranging from increased susceptibility to infections to significant immune dysregulation, often leading to multiple autoimmune phenomena, lymphoproliferation, and malignancy. The treatment is challenging as it requires careful balancing of immunosuppression in subjects at increased risk of infections. Recently, the improved ability to define inborn errors of immunity pathophysiology at the molecular level has set the basis for the development of targeted therapeutic interventions. Such a "precision medicine" approach is mainly bases on the use of available small molecules and biologics to target a specific cell function. In this article, we summarize the clinical and laboratory features of various recently described inborn errors of immunity associated with immune dysregulation and hyperinflammation in which mechanism-based therapeutic approaches have been implemented.
Identifiants
pubmed: 31508401
doi: 10.3389/fped.2019.00353
pmc: PMC6718615
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
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