combined immunodeficiency due to OX40 deficiency
Findings
No curated finding names combined immunodeficiency due to OX40 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma.
Definition from the Mondo Disease Ontology (MONDO:0014268), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Kaposi's sarcomaHPOHP:0100726
- 3 of 3 reported patients · Childhood onset
- Coombs-positive hemolytic anemiaHPOHP:0004844
- PancytopeniaHPOHP:0001876
- SplenomegalyHPOHP:0001744
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.
- TNFRSF4HGNC:11918
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: combined immunodeficiency due to OX40 deficiency
- Also called
- combined immunodeficiency with childhood-onset Kaposi sarcomacombined immunodeficiency with impaired immunity to HHV-8combined immunodeficiency with impaired immunity to human herpes virus 8immunodeficiency type 16