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immunodeficiency 16
Summary
- Synonym
-
- IMD16
- OX40 deficiency
- combined immunodeficiency due to OX40 deficiency
- combined immunodeficiency with childhood-onset Kaposi sarcoma
- combined immunodeficiency with impaired immunity to HHV-8
- combined immunodeficiency with impaired immunity to human herpes virus 8
- Definition
- A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33.
- Super Class
- autosomal recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0111935
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
Related Genes
