immunodeficiency 37
MONDO:0014491Mondo
Findings
No curated finding names immunodeficiency 37 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.
Definition from the Mondo Disease Ontology (MONDO:0014491), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
8 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.
- ColitisHPOHP:0002583
- 1 of 1 reported patient
- Decreased central memory CD4+ T cell proportionHPOHP:0410388
- 1 of 1 reported patient
- Infectious encephalitisHPOHP:0002383
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Status epilepticusHPOHP:0002133
- 1 of 1 reported patient
- Decreased circulating immunoglobulin concentrationHPO
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.
- BCL10HGNC:989
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: immunodeficiency 37
- Also called
- BCL10 primary immunodeficiency diseasecombined immunodeficiency due to BCL10 deficiencyimmunodeficiency type 37primary immunodeficiency disease caused by mutation in BCL10