Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased specific pneumococcal antibody level
Always present (100%)HP:0012476
Recurrent ear infections
Always present (100%)HP:0410018
respiratory infections, recurrent
Always present (100%)HP:0002205
Immunoglobulin IgG2 deficiency
Very frequent (80-99%)HP:0008348
Increased proportion of CD19+CD38+IgM+ cells
Very frequent (80-99%)HP:0030381
Pneumonia
Very frequent (80-99%)HP:0002090
Recurrent upper and lower respiratory tract infections
Very frequent (80-99%)HP:0200117
Autoimmune disorder
Frequent (30-79%)HP:0002960
B cell lymphopenia
Frequent (30-79%)HP:0010976
Bronchiectasis
Frequent (30-79%)HP:0002110
Chronic sinus disease
Frequent (30-79%)HP:0011109
Decreased circulating immunoglobulin concentration
Frequent (30-79%)HP:0004313
Decreased class-switched memory B cell proportion
Frequent (30-79%)HP:0030388
Enlarged liver
Frequent (30-79%)HP:0002240
Increased IgM levels
Frequent (30-79%)HP:0003496
Intestinal lymphoid nodular hyperplasia
Frequent (30-79%)HP:0011956
Large spleen
Frequent (30-79%)HP:0001744
Lymph node hyperplasia
Frequent (30-79%)HP:0002716
Recurrent middle ear infection
Frequent (30-79%)HP:0000403
Reduced number of T cells
Frequent (30-79%)HP:0005403
Abnormality of the intestine
Occasional (5-29%)HP:0002242
Cancer of lymphatic system
Occasional (5-29%)HP:0002665
Deafness
Occasional (5-29%)HP:0000365
Decreased size of cranium
Occasional (5-29%)HP:0000252
Fulminant infectious mononucleosis
Occasional (5-29%)HP:0031693
Joint inflammation
Occasional (5-29%)HP:0001369
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
Recurrent inflammation of tonsils
Occasional (5-29%)HP:0011110
Severe cytomegalovirus infection
Occasional (5-29%)HP:0031692
Quick Facts
- SNOMED CT
- 711480000
- UMLS CUI
- C3714976
- Fully Specified Name
- Activated PI3K-delta syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.