idiopathic CD4 lymphocytopenia
Findings
No curated finding names idiopathic CD4 lymphocytopenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.
Definition from the Mondo Disease Ontology (MONDO:0014226), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Decreased total B cell countHPOHP:0010976
- 3 of 3 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 3 of 3 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 3 of 3 reported patients
- Decreased total T cell countHPOHP:0005403
- 3 of 3 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 3 of 3 reported patients
- Inverted CD4:CD8 ratioHPO
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.
- UNC119HGNC:12565
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: idiopathic CD4 lymphocytopenia
- Also called
- immunodeficiency type 13