| Metadata | |
|---|---|
| ID | DOID:0111935 |
| Name | immunodeficiency 16 |
| 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. https://pubmed.ncbi.nlm.nih.gov/20156905/, https://pubmed.ncbi.nlm.nih.gov/23897980/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
combined immunodeficiency due to OX40 deficiency [EXACT] combined immunodeficiency with childhood-onset Kaposi sarcoma [EXACT] combined immunodeficiency with impaired immunity to HHV-8 [EXACT] combined immunodeficiency with impaired immunity to human herpes virus 8 [EXACT] IMD16 [EXACT] OX40 deficiency [EXACT] |
| Parent Relationships |