hyper-IgM syndrome type 3
MONDO:0011735Mondo
Findings
No curated finding names hyper-IgM syndrome type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.
Definition from the Mondo Disease Ontology (MONDO:0011735), read 2026-09-29. CC BY 4.0.
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.
- CD40HGNC:11919
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
5 names
Resolves to: hyper-IgM syndrome type 3
- Also called
- CD40 hyper-IgM syndromeHIGM3hyper-IgM syndrome caused by mutation in CD40hyper-IgM syndrome due to CD40 deficiencyimmunodeficiency with hyper-IgM type 3