Inborn Errors of Immunity With Immune Dysregulation: From Bench to Bedside

Ottavia Maria Delmonte, Riccardo Castagnoli, Enrica Calzoni, Luigi Daniele Notarangelo

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number353
JournalFrontiers in Pediatrics
Publication statusPublished - Aug 27 2019
Externally publishedYes


  • combined immunodeficiency
  • gain of function (GOF)
  • immunedysregulation
  • monoclonals
  • precision medicine
  • primary immunodeficiency diseases (PID)
  • small molecules

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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