PAX5-related B lymphopenia and autism spectrum disorder
MONDO:0100299Mondo
Findings
No curated finding names PAX5-related B lymphopenia and autism spectrum disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
PAX5 deficiency causing neurodevelopmental abnormalities including autism spectrum disorder in addition to hypogammaglobulinemia due to early B cell developmental block and impaired immune responses.
Definition from the Mondo Disease Ontology (MONDO:0100299), 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.
- PAX5HGNC:8619
- Moderate · ClinGen · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: PAX5-related B lymphopenia and autism spectrum disorder
- Also called
- hypogammaglobulinemia and autism spectrum disorder