Living with Inflammatory bowel disease, immunodeficiency, and encephalopathy
A rare genetic condition starting in infancy with severe bowel inflammation and brain and nervous system disease.
Understanding Inflammatory bowel disease, immunodeficiency, and encephalopathy
It causes severe bowel inflammation with bloody diarrhea and poor weight gain, plus central nervous system disease. This includes developmental delay and regression, trouble speaking, low muscle tone, and epilepsy. Some people have repeated infections and low T cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bloody diarrhea
- Fistulas near the anus
- Seizures
- Brain shrinkage (cerebral atrophy)
- Candida infection of the esophagus
- High white blood cell count
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, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TGFB1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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
Changes in the TGFB1 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: infantile inflammatory bowel disease with neurological involvement
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 Inflammatory bowel disease, immunodeficiency, and encephalopathy.
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