Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.

Also known as: immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis

63 clinical trials for this condition and its sub-types, 0 tagged with Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome itself.