| Metadata | |
|---|---|
| ID | DOID:0112063 |
| Name | X-Linked immunodeficiency 74 |
| Definition | A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. https://pubmed.ncbi.nlm.nih.gov/32706371/ |
| Xrefs | |
| Synonyms |
IMD74 [EXACT] respiratory insufficiency due to SARS-CoV-2 viral infection [EXACT] TLR7 deficiency [EXACT] X-linked immunodeficiency 74,COVID-19-related [EXACT] |
| Parent Relationships |
is_a T cell deficiency |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |