activated PI3K-delta syndrome
MONDO:0018338Mondo
Findings
No curated finding names activated PI3K-delta syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
24 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- PneumoniaHPOHP:0002090
- Very frequent (80% to 99% of cases)
- Recurrent upper and lower respiratory tract infectionsHPOHP:0200117
- Very frequent (80% to 99% of cases)
- AutoimmunityHPOHP:0002960
- Frequent (30% to 79% of cases)
- BronchiectasisHPOHP:0002110
- Frequent (30% to 79% of cases)
- Chronic sinusitisHPOHP:0011109
- Frequent (30% to 79% of cases)
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- Frequent (30% to 79% of cases)
- Decreased total B cell countHPOHP:0010976
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Increased circulating IgM concentrationHPOHP:0003496
- Frequent (30% to 79% of cases)
- Intestinal lymphoid nodular hyperplasiaHPOHP:0011956
- Frequent (30% to 79% of cases)
- LymphadenopathyHPOHP:0002716
- Frequent (30% to 79% of cases)
- Recurrent otitis mediaHPOHP:0000403
- Frequent (30% to 79% of cases)
Show the remaining 12
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Abnormal intestine morphologyHPOHP:0002242
- Occasional (5% to 29% of cases)
- ArthritisHPOHP:0001369
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
- LymphomaHPOHP:0002665
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: activated PI3K-delta syndrome
- Also called
- APDSsenescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation