immunodeficiency 75
MONDO:0030858Mondo
Findings
No curated finding names immunodeficiency 75 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- BronchiectasisHPOHP:0002110
- 3 of 3 reported patients
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 3 of 3 reported patients
- HepatosplenomegalyHPOHP:0001433
- 3 of 3 reported patients
- LymphadenopathyHPOHP:0002716
- 3 of 3 reported patients
- LymphomaHPOHP:0002665
- 3 of 3 reported patients
- Moderate global developmental delayHPOHP:0011343
- 3 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 3 reported patients
- Decreased FasL-mediated apoptosisHPOHP:4000057
- 2 of 3 reported patients
- Persistent EBV viremiaHPOHP:0020072
- 1 of 3 reported patients
- Follicular hyperplasiaHPOHP:0002729
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.
- TET2HGNC:25941
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 75
- Also called
- IMD75