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Disease Profile

Immunodysregulation, polyendocrinopathy and enteropathy X-linked

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

E31.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

IPEX syndrome; X-linked autoimmunity-allergic dysregulation syndrome; XLAAD;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;

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]

Symptoms

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.

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 I diabetes
Type 1 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
Anti-glutamic acid decarboxylase antibody positivity
0025329
Arthritis
Joint inflammation
0001369
Chronic diarrhea
0002028
Colitis
0002583
Coombs-positive hemolytic anemia
0004844
Dependency on intravenous nutrition
0025156
Eczema
0000964
Erythroderma
0001019
Failure to thrive
Faltering weight
Weight faltering

[ more ]

 0001508
Food allergy
0500093
Gastritis
Stomach inflammation
0005263
Global developmental delay
0001263
Glomerulonephritis
0000099
Hyperthyroidism
Overactive thyroid
0000836
Ileus
0002595
Lymphadenopathy
Swollen lymph nodes
0002716
Meningitis
0001287
Myositis
Muscle inflammation
0100614
Nasogastric tube feeding
0040288
Nephrotic syndrome
0000100
Neutropenia
Low blood neutrophil count
Low neutrophil count

[ more ]

 0001875
Osteomyelitis
Bone infection
0002754
Pneumonia
0002090
Seizure
0001250
Sepsis
Infection in blood stream
0100806
Severe infection
0032169
Splenomegaly
Increased spleen size
0001744
Ventriculomegaly
0002119
Villous atrophy
0011473
Percent of people who have these symptoms is not available through HPO
Eosinophilia

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.

    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

      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

        • 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.

          References

          1. Hannibal MC & Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; https://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. https://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. https://www.ncbi.nlm.nih.gov/pubmed/19122524.

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