National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Immunodysregulation, polyendocrinopathy and enteropathy X-linked

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Other Names:
IPEX syndrome; X-linked autoimmunity-allergic dysregulation syndrome; XLAAD; IPEX syndrome; X-linked autoimmunity-allergic dysregulation syndrome; XLAAD; IDDM secretory diarrhea syndrome; DMSD; Autoimmunity-immunodeficiency syndrome x-linked; Diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked; Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy; Polyendocrinopathy, immune dysfunction and diarrhea x-linked; XPID See More
Categories:
This disease is grouped under:
Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease. it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome.[1] There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females.[2][3] Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.[1]  
Last updated: 2/20/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Allergy 0012393
Anti-thyroid peroxidase antibody positivity 0025379
Crusting erythematous dermatitis 0007473
Eczematoid dermatitis 0000976
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Increased circulating IgE level 0003212
Iron deficiency anemia 0001891
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells 0031401
Secretory diarrhea 0005208
Thyroiditis
Thyroid gland inflammation
0100646
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ] 		0100651
5%-29% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Anti-liver cytosolic antigen type 1 antibody positivity 0030909
Autoimmune hemolytic anemia 0001890
Autoimmune thrombocytopenia 0001973
Cachexia
Wasting syndrome
0004326
Decreased prealbumin level 0031085
Elevated hepatic transaminase
High liver enzymes
0002910
Hepatitis
Liver inflammation
0012115
Hypoalbuminemia
Low blood albumin
0003073
Hypocalcemia
Low blood calcium levels
0002901
Hypomagnesemia
Low blood magnesium levels
0002917
Hypothyroidism
Underactive thyroid
0000821
Insulin receptor antibody positivity 0031104
Interstitial pneumonitis 0006515
Malabsorption
Intestinal malabsorption
0002024
Membranous nephropathy 0012578
Nail dystrophy
Poor nail formation
0008404
Neutropenia in presence of anti-neutropil antibodies 0001904
Psoriasiform dermatitis 0003765
Recurrent gastroenteritis 0031123
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] 		0002205
Recurrent skin infections
Skin infections, recurrent
0001581
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Tubulointerstitial nephritis 0001970
Urticaria
Hives
0001025
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Alopecia
Hair loss
0001596
Colitis 0002583
Dependency on intravenous nutrition 0025156
Gastritis
Stomach inflammation
0005263
Hyperthyroidism
Overactive thyroid
0000836
Ileus 0002595
Lymphadenopathy
Swollen lymph nodes
0002716
Meningitis 0001287
Myositis
Muscle inflammation
0100614
Nasogastric tube feeding 0040288
Nephrotic syndrome 0000100
Osteomyelitis
Bone infection
0002754
Pneumonia 0002090
Sepsis
Infection in blood stream
0100806
Splenomegaly
Increased spleen size
0001744
Percent of people who have these symptoms is not available through HPO
Diabetes mellitus 0000819
Diarrhea
Watery stool
0002014
Eczema 0000964
Eosinophilia
High blood eosinophil count
0001880
Immune dysregulation
Unregulated immune response
0002958
Thrombocytopenia
Low platelet count
0001873
Variable expressivity 0003828
Villous atrophy 0011473
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Fewer than 150 individuals have ever been diagnosed with immunodysregulation polyendocrinopathy enterology x-linked (IPEX) syndrome, but there may be many unreported cases.[1]
Last updated: 2/23/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Wiskott-Aldrich and Omenn syndromes, susceptibility to viral and mycobacterial infections, CD25 deficiency, IL10R deficiency, STAT5b deficiency, transient neonatal diabetes, severe combined immunodeficiency or intermediate forms of combined immunodeficiency, X-linked thrombocytopenia and pancreatic hypoplasia or agenesis (see these terms).
Visit the Orphanet disease page for more information.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Immunodysregulation, polyendocrinopathy and enteropathy X-linked. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Immunodysregulation, polyendocrinopathy and enteropathy X-linked. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How is immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) diagnosed in women?Also, how rare is this disease? See answer


  1. Hannibal MC & Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1118/.
  2. Verbsky JW & Chatila TA. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-Related Disorders: an Evolving Web of Heritable Autoimmune Diseases. Curr Opin Pediatr. December, 2013; 25(6):708–714. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4047515/.
  3. Ruemmele FM, Moes N, de Serre NP, Rieux-Laucat F & Goulet O. Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. Current Opinion in Gastroenterology. 2008; 24:742-748. http://www.ncbi.nlm.nih.gov/pubmed/19122524.