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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
X-Linked immunodeficiency 74
Summary
- Synonym
-
- IMD74
- TLR7 deficiency
- X-linked immunodeficiency 74,COVID-19-related
- respiratory insufficiency due to SARS-CoV-2 viral infection
- 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.
- Super Class
- T cell deficiency X-linked recessive disease
External Links
- Disease Ontology
- DOID:0112063
- Mondo Disease Ontology
- OMIM
