immunodeficiency 69
MONDO:0033541Mondo
Findings
No curated finding names immunodeficiency 69 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
14 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.
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- FeverHPOHP:0001945
- 2 of 2 reported patients
- HepatosplenomegalyHPOHP:0001433
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 2 of 2 reported patients
- BCGitisHPOHP:0020086
- 1 of 2 reported patients · Infantile onset
- BCGosisHPOHP:0020087
- 1 of 2 reported patients · Infantile onset
- HemophagocytosisHPOHP:0012156
- 0 of 1 reported patient
- DiarrheaHPOHP:0002014
- Failure to thriveHPOHP:0001508
- Infantile onset
- Increased circulating ferritin concentrationHPOHP:0003281
- PancytopeniaHPOHP:0001876
- Skin rashHPOHP:0000988
Show the remaining 2
- SplenomegalyHPOHP:0001744
- ThrombocytosisHPOHP:0001894
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.
- IFNGHGNC:5438
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 69
- Also called
- immunodeficiency 69, mycobacteriosis