Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
MONDO:0012757Lung 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
85 clinical trials for this condition and its sub-types.
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New stem cell method aims to protect kids with rare immune disease
Disease control TerminatedThis study tested a way to improve stem cell transplants for children with combined immunodeficiency (CID), a condition where the immune system doesn't work properly. The approach removed certain naive cells from the donor stem cells to try to prevent graft-versus-host disease (a…
Phase: PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:02 UTC
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Lung disease drug trial in kids halted early
Disease control TerminatedThis study tested whether hydroxychloroquine could help children with a rare lung condition called interstitial lung disease. About 35 children were planned to take either the drug or a placebo to see if their oxygen levels or breathing improved. The trial was stopped early, so r…
Phase: PHASE2 • Sponsor: Matthias Griese • Aim: Disease control
Last updated Jun 27, 2026 08:00 UTC