Living with Gastrointestinal defects and immunodeficiency syndrome 1
A rare genetic condition with blocked or missing sections of the intestine, a weak immune system, and bowel and liver problems.
Understanding Gastrointestinal defects and immunodeficiency syndrome 1
The main feature is multiple intestinal atresia, where parts of the digestive tract are blocked or closed, from the stomach to the rectum. It also involves combined immunodeficiency and inflammatory bowel disease. Other features include liver problems such as cholestasis and cirrhosis, and a small thymus gland. People are more likely to get bacterial and viral infections.
Signs & symptoms
GARD lists these among the clinical features:
- Blocked or missing sections of the intestine (atresia)
- Calcium deposits in the belly
- Slowed bile flow in the liver (cholestasis)
- Liver scarring (cirrhosis)
- Small thymus gland
- More frequent bacterial and viral infections
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD describes this as a genetic disease but does not list the gene or how it is inherited.
Also known as: autosomal recessive combined immunodeficiency with multiple intestinal atresias; cid-mia/early-onset ibd - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease; combined immunodeficiency due to ttc7a mutation; combined immunodeficiency-enteropathy spectrum; combined immunodeficiency, enteropathy spectrum; fipa
Patient organizations
Rare-disease groups that can help
- 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 Gastrointestinal defects and immunodeficiency syndrome 1.
Explore research for Gastrointestinal defects and immunodeficiency syndrome 1
Explore actively recruiting Gastrointestinal defects and immunodeficiency syndrome 1 studies with HealthSpark.
Find actively recruiting studies for Gastrointestinal defects and immunodeficiency syndrome 1 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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