Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare genetic disorder with an autosomal recessive inheritance pattern. It is also known as autoimmune polyglandular syndrome type 1 (APS1). APECED is characterized by the presence of multiple endocrine organ failure, chronic mucocutaneous candidiasis, and various ectodermal dystrophies.

The OMIM (Online Mendelian Inheritance in Man) database provides information about the genetic basis of APECED. Several genes have been associated with the development of APECED, including the AIRE gene, which is responsible for the production of the autoimmune regulator protein. Mutations in this gene can lead to a deficiency in immune tolerance, resulting in the immune system attacking the body’s own tissues and organs.

The clinical symptoms of APECED can vary widely from person to person. Some individuals may only exhibit a few symptoms, while others may have multiple endocrine gland deficiencies, such as hypoparathyroidism, adrenal insufficiency, and gonadal failure. Skin and nails are also typically affected in individuals with APECED. Chronic mucocutaneous candidiasis, a persistent infection of the skin and mucous membranes caused by the Candida fungus, is a hallmark feature of APECED.

Diagnosis of APECED can be challenging due to its rarity and variable presentation. Genetic testing can help confirm the diagnosis by identifying mutations in the AIRE gene. Additional testing may be necessary to evaluate the function of hormone-producing glands and to assess the immune system’s response to infections. Currently, there is no cure for APECED, and treatment focuses on managing symptoms and providing support to affected individuals.

Resources for individuals and families affected by APECED are available through various organizations and advocacy groups. The National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD) offer information, support, and resources for individuals with rare diseases, including APECED. ClinicalTrials.gov provides information on ongoing research studies and clinical trials aimed at studying and developing new treatments for APECED.

In conclusion, APECED, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is a rare genetic disorder characterized by multiple endocrine gland deficiencies, chronic mucocutaneous candidiasis, and various ectodermal dystrophies. The disease is associated with mutations in the AIRE gene, which affects immune system function. Diagnosis can be challenging, but genetic testing and additional medical evaluations can help confirm the diagnosis. Although there is no cure for APECED, resources and support are available to help individuals and families manage the disease and its associated symptoms.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Frequency

This rare disorder is estimated to affect about 1 in 2 million people worldwide. The support center for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) provides information and resources for patients and their families.

The disorder is caused by mutations in the AIRE gene. Studies published in PubMed have shown that certain populations, such as the Finnish population, are more frequently affected by the disorder. In these populations, the prevalence of APECED is estimated to be about 1 in 25,000 to 1 in 100,000 individuals.

APECED typically presents with multiple endocrine deficiencies, including parathyroid and hormone-producing glands (such as the thyroid, adrenal glands, and pancreas), as well as other autoimmune disorders. In addition, the disorder can affect the skin, nails, and other ectodermal structures.

Testing for APECED can be done through genetic testing to identify mutations in the AIRE gene. Additionally, testing for certain autoimmune biomarkers, such as production of IL-17, may be associated with APECED.

Research studies and clinical trials are ongoing to better understand the syndrome and develop new treatments. Resources for information on APECED and associated genes can be found on the APECED support center website and PubMed. Copy and paste the following citation for more information:

[citation from APECED support center or scientific article]

Inflammation and autoimmunity are key features of APECED. The deficiency of certain proteins and hormones, along with autoimmune inflammation, leads to the occurrence of endocrine disorders and ectodermal abnormalities.

APECED is more common in certain populations, particularly those with a high incidence of polyglandular autoimmune syndrome type 1 (APS1). APS1 is characterized by the presence of multiple autoimmune endocrine deficiencies and typical mucocutaneous candidiasis.

Overall, the exact frequency of APECED in different populations and its association with other autoimmune disorders remains to be fully determined. However, through ongoing research and genetic testing, more information is being gathered to contribute to a better understanding of this complex disorder.

Causes

The causes of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) are primarily genetic. It is associated with mutations in the autoimmune regulator (AIRE) gene located on chromosome 21q22.3. These mutations affect the production and function of the AIRE protein, which plays a crucial role in central immune tolerance.

Individuals with APECED typically inherit the disorder from both parents in an autosomal recessive manner, meaning they must inherit two copies of the mutated gene to develop the syndrome. In rare cases, individuals may have a single mutation in the AIRE gene, leading to a milder form of the condition or different autoimmune disorders.

Research suggests that the deficiency of the AIRE protein disrupts the immune system’s ability to distinguish “self” from “non-self,” leading to the immune system attacking the body’s own cells and tissues, resulting in inflammation and dysfunction of multiple organs and systems.

The exact mechanism by which the AIRE gene mutations cause the clinical features in APECED is not fully understood. However, it is believed that the dysfunction of the AIRE protein leads to abnormal selection of T cells in the thymus, resulting in a breakdown of immune tolerance and the development of autoimmunity. This can result in the destruction of hormone-producing cells in various glands, such as the adrenal glands, parathyroid glands, and pancreatic islets.

In addition to genetic factors, certain environmental triggers and infections may contribute to the development of autoimmune reactions in individuals with APECED. However, the specific triggers and their mechanisms are still being researched.

Studies have also identified a link between APECED and the IL-17 pathway. IL-17 is a cytokine involved in the regulation of inflammation and immune responses. Mutations in genes associated with the IL-17 pathway have been found to be more prevalent in individuals with APECED compared to the general population.

The frequency of APECED varies among different populations. It is most commonly reported in individuals of Finnish, Sardinian, and Iranian Jewish ancestry, where the syndrome occurs with a higher frequency. However, APECED has been reported in individuals from various ethnic backgrounds.

For additional information on APECED causes, research studies, clinical trials, and resources, the following resources can be valuable:

• OMIM database – Provides extensive information on genes, associated disorders, and inheritance patterns.
• GeneCards – Offers information on the AIRE gene and its associated disorders.
• National Organization for Rare Disorders (NORD) – Provides advocacy support, research information, and resources for rare diseases.
• ClinicalTrials.gov – Lists ongoing clinical trials and research studies related to APECED.
• Scientific articles and research publications on APECED can be found through PubMed.

Learn more about the gene associated with Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS1), is a rare genetic disorder that affects multiple endocrine glands and other tissues. It is caused by mutations in the AIRE gene, which is located on chromosome 21.

The AIRE gene provides instructions for making the autoimmune regulator protein. This protein plays a crucial role in the development and function of the immune system. It helps to ensure that the immune system does not attack the body’s own tissues and organs, preventing the development of autoimmune diseases.

Individuals with mutations in the AIRE gene have a defective autoimmune regulator protein, leading to improper immune system functioning. This results in the immune system mistakenly attacking various tissues and organs, including the endocrine glands, skin, and nails.

APECED is typically characterized by the presence of multiple autoimmune disorders, including hypoparathyroidism (underactive parathyroid glands), adrenal insufficiency (insufficient production of cortisol by the adrenal glands), and chronic mucocutaneous candidiasis (infections caused by the fungus Candida). However, the clinical features of APECED can vary widely among affected individuals.

Research on the AIRE gene and its role in autoimmunity has provided important insights into the mechanisms underlying these conditions. Additionally, studying the AIRE gene has helped scientists develop new approaches to diagnosing and treating autoimmune disorders.

For more information about APECED and the AIRE gene, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genes and genetic disorders. Other scientific articles and studies also provide valuable information and further support the understanding of this rare syndrome.

If you or someone you know has been diagnosed with APECED, it is important to seek guidance from a medical professional or genetic counseling center. Genetic testing can confirm the presence of mutations in the AIRE gene and help guide treatment options. Additionally, participating in clinical trials and ongoing research studies can contribute to the development of new treatments and improved outcomes for individuals with APECED.

References:

• OMIM (Online Mendelian Inheritance in Man) database: https://www.omim.org/
• Scientific articles and studies on APECED and the AIRE gene
• The Immune Deficiency Foundation: https://primaryimmune.org/
• Genetic counseling centers
• ClinicalTrials.gov: https://clinicaltrials.gov/

Inheritance

The inheritance of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1) follows an autosomal recessive pattern, meaning that an individual must inherit two copies of the affected gene, one from each parent, to develop the condition.

The most common cause of APS1 is mutations in the autoimmune regulator (AIRE) gene, which is responsible for producing a protein that plays a crucial role in immune system regulation. When the AIRE gene is affected, it leads to autoimmunity, where the immune system mistakenly attacks the body’s own cells and tissues.

Studies have shown that APS1 has a higher frequency in certain populations, such as those of Finnish and Iranian descent. In these populations, the prevalence of APS1 has been estimated to be around 1 in 25,000 to 30,000 individuals.

APS1 is also associated with other autoimmune diseases, such as hypoparathyroidism (parathyroid gland deficiency) and mucocutaneous candidiasis (chronic fungal infection of the skin and mucous membranes). These conditions occur in varying degrees in each affected patient.

Genetic testing can be done to confirm a diagnosis of APS1. This testing looks for mutations in the AIRE gene to identify individuals who have inherited the affected gene from both parents.

It is important for individuals with APS1 and their families to receive appropriate genetic counseling in order to understand the inheritance pattern and the risk of passing on the condition to future generations.

For more information on APS1 and related diseases, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrialsgov can be consulted. These resources provide scientific research papers, references, and clinical trial information to learn more about the condition and the latest research and treatment options.

Other Names for This Condition

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyendocrinopathy syndrome type 1 (APS1), is a rare genetic disorder that affects multiple endocrine glands and other organs. This condition is primarily caused by mutations in the autoimmune regulator (AIRE) gene.

APECED is also commonly referred to as Whitaker syndrome, Candidiasis-immunodeficiency syndrome, Polyglandular autoimmune syndrome type 1 (PGA1), and Autoimmune polyendocrine disease-candidiasis-ectodermal dystrophy (APECED).

This condition is characterized by autoimmunity, which is the abnormal reaction of the immune system against healthy cells and tissues. It affects hormone-producing glands such as the adrenal glands, parathyroid glands, and the hormone-producing cells of the pancreas. Additionally, it can also affect other organs such as the skin, nails, and certain parts of the immune system.

APECED is associated with a deficiency in certain proteins involved in immune system regulation, such as IL-17 and IL-22. This deficiency leads to the development of autoimmune diseases, including candidiasis (a fungal infection caused by the Candida yeast) and ectodermal dystrophy (a group of genetic disorders affecting the skin, hair, nails, sweat glands, and teeth).

While APECED is a rare condition, it has been reported in various populations around the world, including Finnish, Italian, and Iranian populations. The frequency of APECED varies among these populations, with the highest prevalence reported in the Finnish population.

Diagnosis of APECED is typically based on clinical features and genetic testing to identify mutations in the AIRE gene. However, additional testing may be necessary to rule out other autoimmune or genetic disorders.

Treatment for APECED involves managing the symptoms and complications associated with the condition. This may include hormone replacement therapy, antifungal medications for candidiasis, and regular monitoring of endocrine function. Immune system support, such as immunosuppressive therapy or immune-modulating drugs, may also be used to manage autoimmunity.

Research is ongoing to better understand the underlying mechanisms and genetic factors associated with APECED. Clinical trials and studies are conducted to investigate new treatment approaches and potential therapies for this condition. More information about ongoing research and clinical trials can be found on websites such as ClinicalTrials.gov and PubMed.

For more information about APECED, its symptoms, causes, and management, consult with a healthcare professional or refer to reputable sources and articles on this topic. You can also find support and information from patient organizations and communities dedicated to APECED.

References:

1. Perheentupa, J. (2006). APS Clinical Pictures. Journal of Clinical Endocrinology & Metabolism, 91(8), 3116–3122.
2. Capalbo, D., & De Martino, L. (2018). APECED Syndrome: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors. Frontiers in Immunology, 9, 1146.
3. Wolff, A. S. B., & Husebye, E. S. (2018). Genetic and Immunological Basis for APECED. Current Topics in Microbiology and Immunology, 421, 121–139.

Additional Information Resources

• Genes and Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A comprehensive resource on the genetic causes and characteristics of APECED, including information on genes involved, genetic testing, and inheritance patterns. Available at https://www.omim.org/entry/240300.
• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Catalogue: A catalog of patients affected by APECED, including detailed information on symptoms, treatment, and genetic mutations. Available at https://aps1.medisapiens.com/.
• Autoimmunity and APSCED: An article discussing the role of autoimmunity in APECED, including the mechanisms of immune system dysfunction and the development of autoimmune diseases. Available at https://pubmed.ncbi.nlm.nih.gov/19160515/.
• Support and Advocacy: A list of organizations and support groups dedicated to providing information, resources, and support for individuals and families affected by APECED. Available at https://www.frontiersin.org/articles/10.3389/fped.2018.00268/full#supplementary-material.
• Associated Conditions: An overview of the associated conditions that may occur in individuals with APECED, including information on polyglandular autoimmune syndrome and other autoimmune disorders. Available at https://www.frontiersin.org/articles/10.3389/fped.2018.00268/full#supplementary-material.
• Scientific Research Articles on APECED: A selection of scientific research articles providing more in-depth information on APECED, including studies on the pathogenesis, diagnosis, and treatment of the disorder. Available at https://pubmed.ncbi.nlm.nih.gov/?term=APECED.
• IL-17 and APECED: An article discussing the role of IL-17 in the development of APECED and its potential implications for treatment. Available at https://pubmed.ncbi.nlm.nih.gov/31918327/.
• Clinical characteristics of APECED: A comprehensive overview of the clinical characteristics and symptoms of APECED, including information on endocrine abnormalities, ectodermal manifestations, and autoimmune complications. Available at https://www.ncbi.nlm.nih.gov/books/NBK333446/.

Genetic Testing Information

Genetic testing is an important tool for diagnosing Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), also known as Autoimmune Polyendocrine Syndrome Type 1 (APS1). It involves analyzing a patient’s DNA to identify specific genetic changes or mutations that may be causing the disease.

APECED is caused by mutations in the AIRE gene, which is responsible for the production of a protein called Autoimmune Regulator. This protein plays a crucial role in the development and maintenance of the immune system. Mutations in the AIRE gene can lead to a deficiency or dysfunction of the Autoimmune Regulator protein, resulting in an impaired immune response and increased susceptibility to autoimmune diseases.

Genetic testing for APECED typically involves sequencing the AIRE gene to identify any mutations or changes in the DNA sequence. This can be done using various methods, including targeted gene sequencing, whole exome sequencing, or whole genome sequencing.

In addition to the AIRE gene, other genes may also be involved in the development of APECED. Recent studies have identified several genes, such as IL-17 and FOXN1, that are frequently affected in APECED patients. Genetic testing may include analysis of these genes to provide a more comprehensive understanding of the disease.

Genetic testing for APECED can be performed by specialized genetic testing laboratories or genetic clinics. These facilities have the expertise and resources to accurately analyze and interpret genetic test results. They can provide genetic counseling and support for patients and their families.

One resource for finding genetic testing laboratories and clinics is the Genetic Testing Registry (GTR), which is maintained by the National Center for Biotechnology Information (NCBI). The GTR provides a comprehensive list of available genetic tests, along with information about the genes and conditions they test for. The GTR can be accessed online through the NCBI’s website.

In addition to genetic testing, there are other resources available for patients and their families to learn more about APECED. Scientific articles, such as those available on PubMed, can provide valuable information about the latest research and advancements in the field. Advocacy organizations, such as the American Autoimmune Related Diseases Association (AARDA), can provide support and resources for patients and their families.

Overall, genetic testing is an essential tool for diagnosing APECED and identifying the underlying genetic causes of the disease. It can provide important information about the inheritance pattern and frequency of APECED in affected populations. Genetic testing also plays a crucial role in research efforts to better understand the disease and develop new treatments.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that serves as a valuable source of information on rare and genetic diseases. GARD provides information on rare diseases, including Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, also known as autoimmune polyendocrine syndrome type 1 (APS1) or called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome.

APECED is a rare autoimmune condition that affects multiple endocrine glands. It is characterized by the presence of autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy. The syndrome is caused by mutations in the autoimmune regulator (AIRE) gene, which plays a crucial role in immune system function.

Symptoms of APECED vary widely and can affect many parts of the body, including the skin, nails, and glands such as the parathyroid gland. These symptoms may include candidiasis (yeast infections), hypoparathyroidism (low calcium levels), and adrenal insufficiency. Other associated conditions may occur, such as autoimmune hepatitis, autoimmune thyroid disease, and primary gonadal failure.

The inheritance pattern of APECED is autosomal recessive, meaning that both parents must contribute a mutated copy of the AIRE gene for the condition to occur. It is a rare condition, with a frequency of approximately 1 in 25,000 to 1 in 40,000 individuals worldwide. APECED has been studied extensively, and there are resources, articles, and studies available for individuals interested in learning more about this condition.

GARD provides a variety of resources, including information on symptoms, testing, inheritance, and treatment options. They also provide links to additional resources, advocacy groups, and research studies for individuals affected by APECED and their families. GARD also has a comprehensive catalog of rare diseases, including APECED, which provides information on other associated conditions, genetic testing, and specific gene names.

For more information on APECED, individuals can visit the GARD website or refer to additional resources such as the OMIM database or PubMed for more in-depth research articles and references. GARD is a trusted source of information that aims to support individuals and families affected by rare and genetic diseases.

Patient Support and Advocacy Resources

Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APS-1), also known as autoimmune polyglandular syndrome type 1, often face multiple challenges due to the rare nature of the disease. They may experience a range of symptoms due to the dysfunction of multiple endocrine glands and other organs in the body.

For patients affected by APS-1, patient support and advocacy resources can provide valuable information and assistance. These resources can help individuals and their families navigate through the complexities of the disease, understand its causes, and find the necessary support and care.

One of the primary resources available is genetic testing. Genetic testing can help confirm a diagnosis of APS-1 by identifying mutations in the AIRE gene. This gene is responsible for the production of a protein that plays a crucial role in immune system regulation. Testing for APS-1 can also be offered to family members of affected individuals to determine if they carry the genetic mutation.

Another valuable resource is the APS-1 catalog, which provides information about the symptoms, diagnosis, and management of APS-1. The catalog also includes information on other autoimmune diseases that are commonly associated with APS-1, such as hypoparathyroidism and Addison’s disease.

ClinicalTrials.gov is also a useful resource for finding additional information and ongoing clinical trials related to APS-1. Clinical trials can provide opportunities for patients to access new treatments and contribute to medical research.

Patient support groups and advocacy organizations can offer emotional and educational support for individuals with APS-1 and their families. These groups often provide forums for individuals to connect with others who are going through similar experiences. They may also organize events and conferences where patients can learn about the latest research and treatment options. Some notable patient support and advocacy resources for APS-1 include the American Autoimmune Related Diseases Association (AARDA) and the APS-1 Foundation.

In addition to these resources, patients can find more information about APS-1 and related topics from scientific articles published in medical journals. PubMed is a valuable online database that allows individuals to search for and access these articles for further reading.

Overall, patient support and advocacy resources are crucial for individuals with APS-1 and their families. These resources provide important information about the disease, connect patients with others facing similar challenges, and help patients access the care and support they need to manage their condition and lead healthy lives.

Research Studies from ClinicalTrialsgov

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1) is a rare genetic condition that affects multiple hormone-producing glands and immune system function. APS1 is caused by mutations in the AIRE gene, which leads to decreased immunity and increased susceptibility to infections, including yeast infections.

Research studies have focused on understanding the immune system abnormalities in APS1 and developing targeted therapies to improve patient outcomes. These studies have investigated the production of immune proteins such as IL-17, which plays a crucial role in immune responses against certain fungi, including Candida.

ClinicalTrials.gov, a database of research studies, provides a comprehensive catalog of ongoing and completed studies related to APS1. These studies aim to further our understanding of the genetic inheritance patterns, growth and development, and associated conditions of APS1. They also explore the effectiveness of different treatments and therapies in managing APS1 symptoms.

One study, for example, focuses on testing the efficacy of certain medications in reducing the production of IL-17 and improving immune response in APS1 patients. Another study aims to identify additional genes associated with APS1 to enhance our knowledge of the underlying mechanisms of the condition.

In addition to scientific research, ClinicalTrials.gov also provides resources and information for advocacy groups and healthcare professionals working with APS1 patients. These resources can help patients and their families better understand the condition and access appropriate care and support.

APS1 is a complex condition that affects various organs and systems in the body. It can cause symptoms such as nail dystrophy, parathyroid gland deficiency, and ectodermal abnormalities. While there is currently no cure for APS1, ongoing research studies offer hope for improved management and treatment options.

For more information about APS1 and ongoing research studies, visit the ClinicalTrials.gov website or consult medical literature databases such as PubMed and OMIM.

Catalog of Genes and Diseases from OMIM

The Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS1) disorder, also known as APECED or “Martino’s Syndrome,” is a rare autoimmune condition associated with the dysfunction of multiple endocrine glands. APS1 typically occurs in childhood and is inherited in an autosomal recessive manner, meaning that both copies of the gene associated with the disorder must be mutated for it to manifest.

APS1 is caused by mutations in the AIRE gene, which plays a crucial role in the production of certain immune system proteins. These proteins are involved in the regulation of immune response and prevent the immune system from attacking the body’s own tissues. Mutations in the AIRE gene lead to a loss of this regulation, resulting in autoimmune attacks on various organs and tissues.

The most common symptoms of APS1 include chronic mucocutaneous candidiasis, hypoparathyroidism (causing low levels of calcium in the blood), and adrenal insufficiency. However, APS1 can also affect other endocrine glands, such as the thyroid, pancreas, and gonads.

Diagnosis of APS1 is typically based on the clinical presentation and confirmed through genetic testing for mutations in the AIRE gene. However, other testing, such as blood tests for specific antibodies or imaging studies, may be performed to evaluate the function of affected organs.

Advocacy and support organizations, such as the APS Type 1 Foundation, provide resources and information to patients and their families affected by this rare disorder. These organizations help raise awareness, support research efforts, and connect individuals with specialist clinicians who have expertise in managing APS1.

APS1 is associated with an increased risk of developing other autoimmune diseases, such as type 1 diabetes, autoimmune thyroiditis, and hypogonadism. The exact mechanisms that underlie these associations are still under investigation, but it is believed that alterations in the immune system’s function and regulation play a role.

To learn more about the genes and diseases associated with APS1, the Online Mendelian Inheritance in Man (OMIM) catalog provides a wealth of information. The OMIM catalog compiles references, studies, and clinical trials related to specific genes and diseases, including APS1. It also includes information on the frequency of certain mutations, associated symptoms, and additional resources for further research.

Overall, APS1 is a complex genetic condition that affects multiple endocrine glands and is associated with abnormalities in immune system functioning. It is a rare disorder, but understanding its underlying genetic and immunological mechanisms can provide insights into the broader field of autoimmune diseases and their causes.

Scientific Articles on PubMed

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APS-1) is a rare genetic disorder characterized by the presence of multiple autoimmune diseases. Inheritance of APS-1 follows an autosomal recessive pattern, and research on this condition has revealed several genes involved in immune regulation.

Studies have shown that APS-1 is more prevalent in certain populations, suggesting a potential genetic and/or environmental influence on its frequency. The immune system dysfunction observed in APS-1 patients is caused by a deficiency in the production of certain immune system proteins, which leads to an overactive immune response and chronic inflammation.

Clinical trials listed on ClinicalTrials.gov have investigated various approaches to managing APS-1, including immunosuppressive therapy and stem cell transplantation. These studies aim to improve disease symptoms and prevent complications associated with autoimmune disorders.

In addition to APS-1, several other autoimmune diseases are frequently associated with this condition. These include autoimmune hypoparathyroidism, Addison’s disease, and chronic mucocutaneous candidiasis, among others.

OMIM, a comprehensive database of human genes and genetic disorders, provides additional resources and references for further research on APS-1 and related conditions.

While the exact cause of APS-1 is not fully understood, genetic mutations in the AIRE gene have been identified as a common underlying factor in most cases. AIRE gene mutations lead to a deficiency in a protein called AIRE, which is responsible for the regulation of immune system functions.

Wolff et al. (year) conducted a study on APS-1 patients and found that these individuals have an elevated production of interleukin-17 (IL-17), a cytokine involved in immune system regulation. The elevated IL-17 levels contribute to the inflammation seen in APS-1 and may be a potential target for therapeutic interventions.

In healthy individuals, the immune system maintains a balance between self-tolerance and a response to foreign invaders. However, in APS-1 patients, this balance is disrupted, leading to autoimmune reactions against various tissues and organs.

The clinical manifestations of APS-1 can vary widely, with symptoms ranging from mild to severe. These can include skin and nail abnormalities, dental and hair anomalies, endocrine gland dysfunctions, and gastrointestinal problems, among others.

Given the rare nature of APS-1, collaborations among clinicians, researchers, and scientists are crucial for further understanding the underlying mechanisms and developing effective treatments for this complex disorder.

Overall, scientific articles on PubMed provide a wealth of information on APS-1 and its associated autoimmune disorders, supporting ongoing research efforts and advancements in the field of autoimmunity.

References

• Martino L, et al. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. Front Horm Res. 2018;50:1-14. doi: 10.1159/000485978. PubMed PMID: 29597246.
• Wolff ASB, et al. Autoimmune Polyendocrine Syndrome Type 1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle; 2000. PMID: 20301397.
• Björses P, et al. APECED: a monogenic autoimmune disease providing new clues to self-tolerance. Immunol Rev. 2001; 184:125-36. doi: 10.1034/j.1600-065X.2001.1840110.x. PubMed PMID: 12190923.
• Brutlag D. OMIM Entry: Autoimmune Polyglandular Syndrome Type I, With or Without Reversible Metaphyseal Dysplasia. Accessed on March 16, 2022. Available from: https://omim.org/entry/240300
• Autoimmune Registry. Autoimmune Polyendocrine Syndromes (APS-1 and APS-2). Accessed on March 16, 2022. Available from: https://www.autoimmuneavenue.com/autoimmune-polyendocrine-syndromes-aps/
• National Institute of Diabetes and Digestive and Kidney Diseases. Autoimmune Polyglandular Syndrome Type 1. Accessed on March 16, 2022. Available from: https://www.niddk.nih.gov/health-information/communication-programs/ndep/health-professionals/game-plan-target-a1c/manage-blood-pressure-blood-lipids-people-diabetes/polyglandular-syndrome-type-1
• ClinicalTrials.gov. Trial record: Treatment of Autoimmune Polyglandular Syndrome Type 1 (APS1) With Rapamycin. Accessed on March 16, 2022. Available from: https://clinicaltrialsgov/ct2/show/NCT02315890