Overview
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, most commonly known as IPEX syndrome, is a very rare and serious genetic disorder that affects the immune system. In a healthy body, the immune system learns to tell the difference between the body's own cells and foreign invaders like bacteria. In IPEX syndrome, this process breaks down. The immune system mistakenly attacks the body's own organs and tissues, causing widespread inflammation and damage. This is called autoimmunity. IPEX syndrome mainly affects three body systems at the same time: the gut (enteropathy), the hormone-producing glands (polyendocrinopathy), and the skin. The most common problems include severe, watery diarrhea that starts in early infancy, type 1 diabetes that appears in the first months of life, and a red, itchy skin rash called eczema. The immune system can also attack the thyroid gland, blood cells, kidneys, and liver. Without treatment, IPEX syndrome is life-threatening, and many affected babies do not survive past the first two years of life. The main treatments are medicines that calm the immune system (immunosuppressants) and, for some children, a bone marrow transplant (also called a stem cell transplant), which can offer the best chance of long-term improvement. Early diagnosis and treatment are critical to improving outcomes.
Also known as:
Key symptoms:
Severe, chronic watery diarrhea starting in early infancyType 1 diabetes diagnosed in the first months of lifeItchy, red skin rash (eczema or eczema-like rash)Poor weight gain and failure to grow normallyThyroid gland problems (hypothyroidism or thyroiditis)Anemia (low red blood cell count)Low platelet count, leading to easy bruising or bleedingKidney inflammation (nephritis)Liver inflammation (hepatitis)Recurrent serious infections due to immune system problemsMuscle wasting and weakness from poor nutritionSwollen lymph nodes
Clinical phenotype terms (50)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
4 eventsAdventHealth Translational Research Institute
Pacific Northwest Research Institute
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome.
Community
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Start the conversation →Latest news about Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Disease timeline:
New recruiting trial: Accessing Care, Clinical Trials and Screening for Underserved Children and Adults With Type 1 Diabetes (ACCESS-T1D)
A new clinical trial is recruiting patients for Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my child a candidate for a bone marrow transplant, and how soon should we consider it?,Which immunosuppressive medicine do you recommend, and what are the main side effects to watch for?,How do we manage my child's diabetes alongside the other treatments?,What signs of infection or worsening should prompt us to go to the emergency room immediately?,Are there any clinical trials for IPEX syndrome that my child might be eligible for?,Should other family members, especially female relatives, be tested to see if they carry the FOXP3 mutation?,What nutritional support does my child need, and will they require tube feeding?
Common questions about Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
What is Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome?
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, most commonly known as IPEX syndrome, is a very rare and serious genetic disorder that affects the immune system. In a healthy body, the immune system learns to tell the difference between the body's own cells and foreign invaders like bacteria. In IPEX syndrome, this process breaks down. The immune system mistakenly attacks the body's own organs and tissues, causing widespread inflammation and damage. This is called autoimmunity. IPEX syndrome mainly affects three body systems at the same time: the gut (enteropathy), the
How is Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome inherited?
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome typically begin?
Typical onset of Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome?
Yes — 1 recruiting clinical trial is currently listed for Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome?
19 specialists and care centers treating Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.