immunodeficiency 86
MONDO:0030448Mondo
Findings
No curated finding names immunodeficiency 86 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
4 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.
- BCGitisHPOHP:0020086
- 3 of 3 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 3 of 3 reported patients
- Increased circulating IgM concentrationHPOHP:0003496
- 2 of 3 reported patients
- Decreased neutrophil oxidative burstHPOHP:0003203
- 0 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.
- SPPL2AHGNC:30227
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency 86
- Also called
- IMD86