Immunodysregulation, polyendocrinopathy and enteropathy X-linked

Información en español Title

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:

Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases; Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Immune System Diseases See More

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Autoimmune hemolytic anemia	-
Diarrhea	-
Eczema	-
Eosinophilia	-
Hypothyroidism	-
Ileus	-
Immune dysregulation	-
Lymphadenopathy	-
Thrombocytopenia	-
Type I diabetes mellitus	-
Variable expressivity	-
Villous atrophy	-
X-linked recessive inheritance	-

Last updated: 9/1/2017

Diagnosis Diagnosis

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.

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

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.

Statistics Statistics

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

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

European Society for Immunodeficiencies (ESID) Registry
Dr. Gerhard Kindle
University Medical Center Freiburg Centre of Chronic Immunodeficiency
Engesserstr. 4
79106 Freiburg Germany
Telephone: 49-761-270-34450
E-mail: esid-registry@uniklinik-freiburg.de
Website: http://esid.org/Working-Parties/Registry

Organizations Organizations

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

International Patient Organization for Primary Immunodeficiencies (IPOPI)
Firside Main Road
Downderry
Cornwall PL11 3LE
United Kingdom
Telephone: 44-01503-250-668
E-mail: Info@ipopi.org
Website: http://www.ipopi.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

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

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

NCATS Co-Sponsored Conferences

Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 - Sunday, May 26, 2013
Location: Lausanne, Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.

Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov

Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research

Related Diseases Related Diseases

The following diseases are related to Immunodysregulation, polyendocrinopathy and enteropathy X-linked. If you have a question about any of these diseases, you can contact GARD.

T cell immunodeficiency primary

GARD Answers GARD Answers

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

Have a question? Contact a GARD Information Specialist.

References References

Hannibal MC & Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1118/.
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/.
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.

Do you know of a review article? Send us your suggestions.