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.
MONDO:0017015
primary interstitial lung disease specific to childhood
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MONDO:0031199
inherited interstitial lung disease
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MONDO:0044200
T-B+ severe combined immunodeficiency
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