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 September 2023.
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Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome?
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Advocacy Organizations
SCID Angels For Life Foundation
SCID Angels for Life is committed to increasing awareness, providing a safe environment for families to connect, granting family scholarships, promoting research, and providing parent and family education for those affected by Severe Combined Immune Deficiency. SCID Angels believes that through our advocacy and support we can empower every patient to strive for the highest possible quality of life
SCID Angels For Life Foundation
SCID Angels for Life is committed to increasing awareness, providing a safe environment for families to connect, granting family scholarships, promoting research, and providing parent and family education for those affected by Severe Combined Immune Deficiency. SCID Angels believes that through our advocacy and support we can empower every patient to strive for the highest possible quality of life
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
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Immune Deficiency Foundation
To improve the diagnosis, treatment and quality of life of people affected by primary immunodeficiency.
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Accessia Health
Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.