hyper-IgM syndrome
MONDO:0003947Mondo
Findings
No curated finding names hyper-IgM syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.
Definition from the Mondo Disease Ontology (MONDO:0003947), read 2026-09-29. CC BY 4.0.
Features
1 feature
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, hp/releases/2026-09-01.
- ImmunodeficiencyMondoHP:0002721
Where it sits
- A kind of
Other names
1 name
Resolves to: hyper-IgM syndrome
- Also called
- immunodeficiency with hyper-IgM