lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome https://www.malacards.org/card/immunodeficiency_ovarian_dysgenesis_and_pulmonary_fibrosis https://www.malacards.org/card/lung_fibrosis_immunodeficiency_46xx_gonadal_dysgenesis_syndrome MEDGEN:461506 Orphanet:137631 MONDO:0012757 OMIM:611926 GARD:0016947 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. immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis UMLS:C3150156 SCTID:721977007 primary interstitial lung disease specific to childhood inherited interstitial lung disease T-B+ severe combined immunodeficiency