immunodeficiency 36 with lymphoproliferation
MONDO:0014453Mondo
Findings
No curated finding names immunodeficiency 36 with lymphoproliferation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
31 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 IgA concentrationHPOHP:0002720
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Decreased circulating IgG concentrationHPOHP:0004315
- 4 of 4 reported patients
- Decreased naive CD4+ T cell proportionHPOHP:0410378
- 4 of 4 reported patients
- Decreased naive CD8+ T cell proportionHPOHP:0410377
- 4 of 4 reported patients
- Decreased total B cell countHPOHP:0010976
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Recurrent bacterial infectionsHPOHP:0002718
- 4 of 4 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 4 of 4 reported patients
- Increased circulating IgM concentrationHPOHP:0003496
- 3 of 4 reported patients
- Increased transitional B cell proportionHPOHP:0030381
- 3 of 4 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 3 of 4 reported patients
- BronchiectasisHPOHP:0002110
- Frequent (30% to 79% of cases)
- Combined immunodeficiencyHPOHP:0005387
- Frequent (30% to 79% of cases)
Show the remaining 19
- Decreased circulating IgG2 concentrationHPOHP:0008348
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 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 respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
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.
- PIK3R1HGNC:8979
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: immunodeficiency 36 with lymphoproliferation
- Also called
- activated PI3K-delta syndrome-2APDS2IMD36immunodeficiency 36immunodeficiency type 36