Autoinflammatory & rare systemic diseases
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
Authors' conclusion
Our study expands the spectrums of clinical phenotype and genotype of APDS, and demonstrates that WES has a high molecular diagnostic yield for patients with immunodeficiency related symptoms, such as respiratory infections, multiple ecchymosis, ANCA-associated vasculitis, multiple ileocecal polyps, hepatosplenomegaly, and lymphoid hyperplasia.
Study context
- Population
- Patients with different clinical presentations harbouring pathogenic PIK3CD variants (APDS1)
- Participants
- 3 patients
- Outcome
- PIK3CD variants and phenotypes
Methodological detailstrio whole-exome sequencing, Sanger sequencing confirmation
- Trio whole-exome sequencing
- Sanger sequencing confirmation
Main finding
As reported in the abstract
Two heterozygous PIK3CD (NM_005026.3) mutations identified by whole exome sequencing (WES) in the three patients
c.3061G > A, p.E1021K and c.1574 A > G, p.E525G
Observational data: associations, not effects.
Original publication
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype. Pediatr Rheumatol Online J. Published 29 January 2024. doi:10.
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