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Peer-reviewedCC BYJournal of human immunity

Characterizing hypertension in activated PI3K delta syndrome: Findings from Epic Cosmos.

  1. 1Herbert Wertheim College of Medicine, Florida International University , Miami, FL, USA.
  2. 2Office of Human Research, Memorial Healthcare System , Hollywood, FL, USA.
  3. 3Division of Immunology, Allergy and Rheumatology, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.

Abstract

APDS is a rare inborn error of immunity with comorbidity patterns that have yet to be characterized at a large scale. Using Epic Cosmos, a de-identified electronic health record database, we conducted a retrospective, cross-sectional analysis of 866 patients identified by structured diagnosis codes (ICD-10: D84.81; SNOMED: 793412000). Findings revealed that hypertension was coded as affecting 28.5% of the cohort, with age-stratified analyses demonstrating higher prevalence among younger APDS patients compared with age-matched non-APDS peers. Among patients aged ≤50 years, hypertension prevalence was 24.05% in the APDS group compared with 10.89% in the age-matched non-APDS population (prevalence ratio 2.21, 95% CI, 1.90-2.57, P < 0.0001). This association remained prominent in a more specific APDS sensitivity cohort in which the base population required an APDS diagnosis, alongside an allergy and immunology encounter. The findings of this paper provide large-scale characterization of APDS and identify hypertension, particularly among younger APDS patients, as a potentially underrecognized comorbidity that warrants further investigation.

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BibTeX
@article{santiago2026characterizing,
  title = {{Characterizing hypertension in activated PI3K delta syndrome: Findings from Epic Cosmos.}},
  author = {Brianna Santiago and Jennifer Keelin and Xiaoqi Sun and Christopher Chang},
  journal = {Journal of human immunity},
  year = {2026},
  month = oct,
  doi = {10.70962/jhi.20250263},
  url = {https://europepmc.org/article/MED/42929758},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Characterizing hypertension in activated PI3K delta syndrome: Findings from Epic Cosmos.
AU  - Brianna Santiago
AU  - Jennifer Keelin
AU  - Xiaoqi Sun
AU  - Christopher Chang
PY  - 2026
DA  - 2026/10/26
JO  - Journal of human immunity
DO  - 10.70962/jhi.20250263
UR  - https://europepmc.org/article/MED/42929758
AB  - APDS is a rare inborn error of immunity with comorbidity patterns that have yet to be characterized at a large scale. Using Epic Cosmos, a de-identified electronic health record database, we conducted a retrospective, cross-sectional analysis of 866 patients identified by structured diagnosis codes (ICD-10: D84.81; SNOMED: 793412000). Findings revealed that hypertension was coded as affecting 28.5% of the cohort, with age-stratified analyses demonstrating higher prevalence among younger APDS patients compared with age-matched non-APDS peers. Among patients aged ≤50 years, hypertension prevalence was 24.05% in the APDS group compared with 10.89% in the age-matched non-APDS population (prevalence ratio 2.21, 95% CI, 1.90-2.57, P < 0.0001). This association remained prominent in a more specific APDS sensitivity cohort in which the base population required an APDS diagnosis, alongside an allergy and immunology encounter. The findings of this paper provide large-scale characterization of APDS and identify hypertension, particularly among younger APDS patients, as a potentially underrecognized comorbidity that warrants further investigation.
SN  - 3065-8993
ER  -