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combined immunodeficiency due to OX40 deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency.
Mondo Term and Equivalent IDs
MONDO:0014268: combined immunodeficiency due to OX40 deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615593
Orphanet:431149
SCTID:766879006
UMLS:C3810053
MONDO:0014268
High level summary of knowledge for a disease, including descriptions and datasource references.