Visualize Submit Comment
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

OMIM:301051

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

is_a X-linked recessive disease

Add an item to the term tracker