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Updated: May 12, 2026

Assessment of Mitochondrial Functions and Cell Viability in Renal Cells Overexpressing Protein Kinase C Isozymes
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[Activated phosphoinositide 3-kinase delta syndrome: report of seven cases]

Qing-Hua Liu1, Li Peng1, Han Huang1

  • 1Pediatric Medical Center, First Hospital Affiliated to Hunan Normal University/Hunan Provincial People's Hospital/Hunan Provincial Key Laboratory of Pediatric Respiratory Disease, Changsha 410005, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|May 27, 2024
PubMed

Insights

Activated phosphoinositide 3-kinase delta syndrome (APDS) in children often presents with recurrent infections and enlarged lymph nodes. Early recognition of key symptoms is crucial for timely diagnosis and management of this rare immune disorder.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Activated phosphoinositide 3-kinase delta syndrome (APDS) is a primary immunodeficiency.
  • Understanding the clinical spectrum and genetic basis of APDS is essential for diagnosis.

Purpose of the Study:

  • To summarize clinical data of 7 children diagnosed with APDS.
  • To enhance the understanding of APDS in pediatric patients.

Main Methods:

  • Retrospective analysis of clinical data from 7 APDS children.
  • Data collected from January 2019 to August 2023 at Hunan Provincial People's Hospital.

Main Results:

  • All 7 children experienced recurrent respiratory infections, hepatosplenomegaly, and lymphadenopathy.
  • Common findings included sepsis (5/7), otitis media (3/7), and caries (3/7).
  • The p.E1021K mutation was identified in 6 patients, and a splice site mutation in one.

Conclusions:

  • The p.E1021K mutation is the most frequent genetic alteration in pediatric APDS.
  • Suspicion of APDS is warranted in children with recurrent infections, hepatosplenomegaly, lymphadenopathy, otitis media, or caries, especially with bronchoscopic findings of nodular protrusions.
Abstract

Keywords:
Activated phosphoinositide 3-kinase delta syndromeChildHepatosplenomegalyLymphadenopathyNodular protrusionRecurrent respiratory tract infection

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