Living with Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
A rare inherited condition that affects the immune system, the ovaries or gonads, and the lungs, beginning in infancy.
Understanding Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
People typically have a 46,XX chromosome pattern. Gonadal dysgenesis means the gonads (reproductive glands) did not develop as usual. It begins in infancy.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Weak immune system (immune deficiency)
- Underdeveloped gonads (gonadal dysgenesis)
- Scarring of the lungs (lung fibrosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, genetic specialists, hormone specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
A child inherits a changed copy of the gene from each parent (autosomal recessive). GARD does not name a gene.
Also known as: immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome.
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