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Activated PI3Kinase Delta Syndrome-A Multifaceted Disease.

Romane Thouenon1, Nidia Moreno-Corona1, Lucie Poggi1

  • 1Laboratory of Human Lymphohematopoiesis, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France.

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|July 12, 2021
PubMed
Summary
This summary is machine-generated.

Activated PI3-kinase-delta syndrome (APDS) results from PIK3CD or PIK3R1 gene mutations, leading to PI3K-delta hyperactivity. This causes variable immune deficiencies, infections, and lymphoproliferation in patients.

Keywords:
PI3K signalingPIK3CDPIK3R1lymphoproliferationprimary immunodeficiency

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Activated PI3-kinase-delta syndrome (APDS) is caused by genetic mutations affecting PI3K-delta signaling.
  • Gain-of-function mutations in PIK3CD (APDS type 1) or loss-of-function mutations in PIK3R1 (APDS type 2) lead to PI3K-delta hyperactivity.
  • APDS presents with a wide spectrum of clinical manifestations, from mild symptoms to severe combined immunodeficiency.

Purpose of the Study:

  • To review the clinical presentation of APDS.
  • To discuss treatment options for APDS.
  • To explore the immunological and biological features of increased PI3K-delta signaling.

Main Methods:

  • Literature review of clinical presentations.
  • Review of treatment strategies.
  • Analysis of immunological and biological data related to PI3K-delta hyperactivity.

Main Results:

  • APDS patients exhibit variable clinical phenotypes, including lymphoproliferation, recurrent infections, and autoimmune manifestations.
  • Increased susceptibility to bacterial and viral infections is common.
  • B cell lymphoma is a noted oncological risk in APDS patients.

Conclusions:

  • Understanding the genetic basis and clinical spectrum of APDS is crucial for diagnosis and management.
  • Targeting PI3K-delta signaling pathways offers potential therapeutic avenues.
  • Further research into the immunological consequences of PI3K-delta hyperactivity is warranted.