Living with Insulin-dependent diabetes mellitus secretory diarrhea syndrome
An inherited immune condition, mostly in boys, with several autoimmune problems that often affect the gut, skin, and hormone glands.
Understanding Insulin-dependent diabetes mellitus secretory diarrhea syndrome
The immune system attacks the body's own tissues (autoimmunity). People develop multiple autoimmune disorders, most often in the intestines, skin, and hormone-producing (endocrine) glands. It begins in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Several autoimmune disorders
- Bowel problems and diarrhea
- Crusting, red skin rash (dermatitis)
- Hormone gland problems, including diabetes
- Allergies
- Autoimmune low blood counts (less common)
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, digestive system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in FOXP3 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
Juvenile Diabetes Research Foundation International and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Juvenile Diabetes Research Foundation International, 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 IPEX Syndrome Foundation and other patient organizations
- 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 FOXP3 gene cause this condition. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome, which is why it mostly affects males.
Also known as: autoimmune enteropathy type 1; autoimmunity-immunodeficiency syndrome, x-linked; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea; diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked; dmsd
Patient organizations
- IPEX Syndrome FoundationInsulin-dependent diabetes mellitus secretory diarrhea syndrome · Juvenile Diabetes Research Foundation International
- Jeffrey Modell FoundationInsulin-dependent diabetes mellitus secretory diarrhea syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Insulin-dependent diabetes mellitus secretory diarrhea syndrome.
Explore research for Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Explore actively recruiting Insulin-dependent diabetes mellitus secretory diarrhea syndrome studies with HealthSpark.
Find actively recruiting studies for Insulin-dependent diabetes mellitus secretory diarrhea syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Insulin-dependent diabetes mellitus secretory diarrhea syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Insulin-dependent diabetes mellitus secretory diarrhea syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.