immunodeficiency 14
MONDO:0014222Mondo
Findings
No curated finding names immunodeficiency 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
32 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.
- Decreased circulating specific pneumococcal antibody concentrationHPOHP:0012476
- 10 of 10 reported patients
- Recurrent ear infectionsHPOHP:0410018
- 17 of 17 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Decreased circulating IgG2 concentrationHPOHP:0008348
- 10 of 11 reported patients
- Increased transitional B cell proportionHPOHP:0030381
- 14 of 16 reported patients
- Increased circulating IgM concentrationHPOHP:0003496
- 14 of 17 reported patients
- BronchiectasisHPOHP:0002110
- 12 of 16 reported patients
- Frequent (30% to 79% of cases)
- LymphadenopathyHPOHP:0002716
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Decreased total T cell countHPOHP:0005403
- 12 of 17 reported patients
- AutoimmunityHPOHP:0002960
- 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)
Show the remaining 20
- Intestinal lymphoid nodular hyperplasiaHPOHP:0011956
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- 10 of 17 reported patients
- Frequent (30% to 79% of cases)
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 8 of 16 reported patients
- Chronic active EBV infectionHPOHP:0032204
- Occasional (5% to 29% of cases)
- ConjunctivitisHPOHP:0000509
- Occasional (5% to 29% of cases)
- DacryocystitisHPOHP:0000620
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PIK3CDHGNC:8977
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: immunodeficiency 14
- Also called
- Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS)immunodeficiency 14A, autosomal dominantimmunodeficiency type 14