immunodeficiency 66
MONDO:0030013Mondo
Findings
No curated finding names immunodeficiency 66 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Abnormal T cell proliferationHPOHP:0031379
- 1 of 1 reported patient
- MeningitisHPOHP:0001287
- 1 of 1 reported patient
- Otitis externaHPOHP:0410017
- 1 of 1 reported patient
- PustuleHPOHP:0200039
- 1 of 1 reported patient
- Recurrent skin infectionsHPOHP:0001581
- 1 of 1 reported patient
- SepsisHPOHP:0100806
- 1 of 1 reported patient
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.
- MRTFAHGNC:14334
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 66
- Also called
- IMD66