activated PI3K delta syndrome
ORPHA: 397596
Overview
medical condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with activated PI3K delta syndrome, sourced from HPO and Orphanet clinical annotations.
PneumoniaRecurrent upper and lower respiratory tract infectionsRecurrent otitis mediaSplenomegalyBronchiectasisHepatomegalyLymphadenopathyAutoimmunityIncreased circulating IgM levelDecreased circulating immunoglobulin concentrationDecreased total B cell countChronic sinusitisIntestinal lymphoid nodular hyperplasiaMicrocephalyHearing impairmentArthritisFailure to thriveAbnormal intestine morphologyLymphomaRecurrent tonsillitisNeurodevelopmental delaySevere cytomegalovirus infectionSevere Epstein Barr virus infectionSevere varicella zoster infection
Classification & Codes
Orphanet Code
ORPHA:397596activated PI3K delta syndrome
| Orphanet | ORPHA:397596 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO