X-Linked immunodeficiency 74

Term ID

DOID:0112063

Synonyms

• IMD74
• respiratory insufficiency due to SARS-CoV-2 viral infection
• TLR7 deficiency
• X-linked immunodeficiency 74,COVID-19-related

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/

References

• OMIM:301051

Ontology

Human Disease   ( DOID:0112063 )