Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Breathe Support Network

MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources

Clinical Trials

For a list of clinical trials in this disease area, please click here.