Alternative titles and symbols : Tlr7 deficiency; Respiratory insufficiency due to sars-cov-2 viral infection;
Description : Immunodeficiency-74 (IMD74) is an X-linked recessive specific immunologic disorder
characterized by the development of severe respiratory insufficiency in response to
infection with the COVID19 coronavirus, also known as SARS-CoV-2 ssRNA coronavirus.
Affected individuals usually require mechanical ventilation in the ICU in order to
survive. Laboratory studies show activation of the immune response and may show perturbation
of some values, such as increased D-dimers and fibrinogen. In vitro functional studies
of patient immune cells show impaired signaling through the TLR7 pathway, resulting
in defective type I and type II interferon (IFN) responses. The patients reported
to date did not have a history of immunodeficiency or chronic disease (summary by
van Der Made et al., 2020).;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the toll-like receptor 7 gene (TLR7, 300365.0001);
DO Cross reference