immunodeficiency 49
Findings
No curated finding names immunodeficiency 49 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 BCL11B gene.
Definition from the Mondo Disease Ontology (MONDO:0014981), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Abnormally low T cell receptor excision circle levelHPOHP:0031545
- 1 of 1 reported patient
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Decreased naive CD4+ T cell proportionHPOHP:0410378
- 1 of 1 reported patient
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Impaired phytohemagglutinin-induced T lymphocyte transformationHPOHP:0025834
- 1 of 1 reported patient
- Intellectual disability
Show the remaining 3
- Severe combined immunodeficiencyHPOHP:0004430
- 1 of 1 reported patient
- Spastic tetraplegiaHPOHP:0002510
- 1 of 1 reported patient
- Umbilical herniaHPOHP:0001537
- 1 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.
- BCL11BHGNC:13222
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
5 names
Resolves to: immunodeficiency 49
- Also called
- BCL11B primary immunodeficiency diseaseIMD49immunodeficiency 49; IMD49immunodeficiency type 49primary immunodeficiency disease caused by mutation in BCL11B