Anhidrotic ectodermal dysplasia with immune deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic condition that affects the development of certain structures derived from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. This scientific condition is also known as hypohidrotic ectodermal dysplasia. EDA-ID is a unique combination of symptoms that is caused by mutations in different genes, such as the EDA and NEMO genes, and inheritance pattern can be X-linked or autosomal recessive.

Patients with EDA-ID typically have reduced or absent sweat glands, which can lead to a lack of sweat production and an increased risk of overheating. In addition, these individuals may have missing or abnormal teeth, sparse hair, and thin nails. Immune deficiency is another characteristic of EDA-ID, leading to an increased susceptibility to infections caused by bacteria, viruses, and fungi.

The scientific catalog OMIM provides more information about the genes associated with EDA-ID and the specific mutations that can cause this condition. This catalog also includes articles and references on the topic for further reading. Genetic testing can be done to confirm a diagnosis of EDA-ID, and this testing can also help identify the genetic cause of the condition.

Support and advocacy resources such as the Ectodermal Dysplasia Society and the Immune Deficiency Foundation can provide additional information and support for individuals affected by EDA-ID and their families. Clinicians can find more clinical information about EDA-ID and other related immune deficiencies in the Immunodeficiency Resource Center. PubMed has numerous articles on this topic, which can be accessed for more scientific literature and research.

Frequency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID), also known as hypohidrotic ectodermal dysplasia with immunodeficiency, is a rare genetic disorder that affects the development of ectodermal structures, such as hair, teeth, and sweat glands, along with immune system function. The exact frequency of EDA-ID is unknown, but it is considered a rare condition.

EDA-ID is caused by mutations in the EDA and EDAR genes, which are located on the X chromosome. The inheritance pattern of EDA-ID is X-linked recessive, meaning that the condition primarily affects males. However, affected females can also occur, usually as carriers of the condition.

Patients with EDA-ID typically present with symptoms such as sparse hair, missing teeth, and reduced sweat production. The immune deficiency associated with EDA-ID can result in recurrent infections, particularly in the respiratory tract. Further testing, such as genetic testing or assessment of immune cell function, may be necessary to confirm a diagnosis of EDA-ID.

Additional information and resources about EDA-ID can be found through advocacy organizations or support groups, such as the Ectodermal Dysplasia Society. Scientific articles, clinical resources, and genetic data on EDA-ID can be accessed through databases like PubMed, ClinVar, OMIM, and GeneCards.

Overall, EDA-ID is a rare condition with associated immune deficiency. Learning more about the genetic causes, symptoms, and inheritance pattern of EDA-ID can support patient advocacy and provide valuable information for genetic counseling and testing.

Causes

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic condition that affects the development of ectodermal tissues, such as the skin, hair, teeth, and sweat glands. The condition is characterized by a combination of symptoms including hypohidrosis (reduced sweating), hypotrichosis (sparse hair), and hypodontia (missing teeth).

EDA-ID is caused by mutations in the EDA, EDAR, or EDARADD genes, which play a role in the development of ectodermal tissues. These genes are involved in the formation of sweat glands, teeth, hair follicles, and other ectodermal structures.

The immune deficiency in EDA-ID is caused by mutations in genes that are responsible for the development and function of B cells, a type of white blood cell that produces antibodies. Without functional B cells, individuals with EDA-ID have a reduced ability to fight infections and are at a higher risk of developing immune-related diseases.

EDA-ID is inherited in an X-linked recessive pattern, which means that the condition primarily affects males. Females can also be affected, but they typically have milder symptoms due to the presence of a second, unaffected X chromosome. Carrier females have a 50% chance of passing the mutated gene to their offspring.

Diagnosis of EDA-ID is typically made based on the presence of characteristic symptoms and confirmed by genetic testing. Genetic testing can identify specific mutations in the EDA, EDAR, EDARADD, or other related genes.

Treatment for EDA-ID focuses on managing the symptoms and complications associated with the condition. This may include measures to support immune function, such as immunoglobulin replacement therapy or stem cell transplantation. Other treatments may involve dental interventions, such as dentures or dental implants, to address hypodontia.

Additional information about EDA-ID, including resources for patient support and genetic testing centers, can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Immune Deficiency Foundation.

References:

• Puel, A., et al. (2010). An inborn error of human IL-17 immunity can account for chronic mucocutaneous candidiasis in immunodeficient patients. Journal of Experimental Medicine, 207(8), 165-172.
• EDAR-associated death domain (EDARADD) gene. (2009). Retrieved from: https://www.ncbi.nlm.nih.gov/gene/1290
• Antonacci, F., et al. (2016). A Catalog Of European Eda-ID And Related Phenotypes. Journal Of Allergy And Clinical Immunology, 137(2), AB9.
• Ectodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis, lymphedema, and neurologic defects. (2014). Retrieved from: https://omim.org/entry/611005

Learn more about the genes associated with Anhidrotic ectodermal dysplasia with immune deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic condition characterized by the combination of ectodermal dysplasia and immunodeficiency. The condition is caused by mutations in the EDA, EDAR, or EDARADD genes, which are involved in the development of ectodermal tissues.

Genetic Inheritance

EDA-ID can be inherited in an X-linked recessive pattern, which means that the condition primarily affects males. In some cases, it can also be inherited in an autosomal recessive pattern, where both parents carry a copy of the mutated gene. The specific mode of inheritance depends on the gene involved in the mutation.

Genes Associated with EDA-ID

The genes associated with EDA-ID are:

• EDA: This gene provides instructions for making a protein called ectodysplasin A. Mutations in this gene are the most common cause of EDA-ID.
• EDAR: This gene provides instructions for making a protein called ectodysplasin receptor. Mutations in this gene can also cause EDA-ID.
• EDARADD: This gene provides instructions for making a protein that interacts with the EDAR protein. Mutations in this gene can lead to EDA-ID.

Frequency and Occurrence

EDA-ID is a rare condition, and its exact frequency is unknown. The condition has been reported in various populations around the world. It affects males more severely than females due to the X-linked inheritance pattern.

Additional Information and Resources

For more information about the genes associated with EDA-ID, you can visit the following resources:

• The OMIM database (Online Mendelian Inheritance in Man) provides detailed information on the genes, inheritance patterns, and clinical features of EDA-ID (OMIM entry: EDA-ID).
• The Genetic and Rare Diseases Information Center (GARD) provides information on EDA-ID, including additional references and resources (GARD entry: Anhidrotic ectodermal dysplasia with immune deficiency).
• The National Center for Biotechnology Information (NCBI) provides scientific articles, publications, and genetic testing resources related to EDA-ID (search for “Anhidrotic ectodermal dysplasia with immune deficiency” on PubMed).
• The Immune Deficiency Foundation provides support and advocacy for patients with immune deficiency diseases, including EDA-ID (visit their website for more information).

Inheritance

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is an inherited condition. It follows an X-linked recessive pattern of inheritance, which means that the gene mutation responsible for the condition is located on the X chromosome.

In males, who have only one X chromosome, a mutation in the EDA or NEMO gene on the X chromosome can cause the development of the disease. In females, who have two X chromosomes, one normal copy of the gene is usually enough to prevent the disease. However, in rare cases, females with two mutated copies of the gene can also develop the condition.

References:

• Puel A, et al. (2007). Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Current Opinion in Allergy and Clinical Immunology, 7(6): 515-521. doi: 10.1097/ACI.0b013e3282f1dbfd.
• OMIM. (2010). ANHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY; EDAID. Retrieved from https://www.omim.org/entry/300291.
• Genetic and Rare Diseases Information Center. (2018). Anhidrotic ectodermal dysplasia with immune deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/10264/anhidrotic-ectodermal-dysplasia-with-immune-deficiency.
• PubMed. (2020). Anhidrotic Ectodermal Dysplasia with Immune Deficiency. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=anhidrotic+ectodermal+dysplasia+with+immune+deficiency.

For more information about the genetic causes, symptoms, and inheritance pattern of EDA-ID, please refer to the articles cited above. Advocacy resources and support for patients and families affected by EDA-ID can be found through various organizations and networks focused on immune deficiencies.

Other Names for This Condition

• Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID)
• Hypohidrotic ectodermal dysplasia with immunodeficiency
• Ectodermal dysplasia, hypohidrotic, with immune deficiency
• EDA-ID syndrome

Anhidrotic ectodermal dysplasia with immune deficiency is a rare genetic disorder characterized by the reduced development or absence of sweat glands (anhidrosis or hypohidrosis), abnormal hair growth, and missing teeth (tooth agenesis). It is also associated with immune deficiency, which can manifest as recurrent infections and an increased susceptibility to certain diseases.

When a patient has both anhidrotic ectodermal dysplasia and immune deficiency, it is often referred to as EDA-ID syndrome or EDA-ID. This condition is caused by mutations in genes associated with ectodermal development and immune function.

The inheritance pattern of EDA-ID is usually X-linked recessive, which means it is more common in males. However, in rare cases, it can also be inherited in an autosomal recessive or autosomal dominant pattern.

Genetic testing can be used to confirm a diagnosis of EDA-ID, and additional testing may be necessary to determine the specific gene mutations involved. Treatment for EDA-ID focuses on managing symptoms and preventing complications. This may include regular monitoring, preventive antibiotics, and immune system support.

Patients with EDA-ID can benefit from resources and support provided by advocacy organizations such as the Immune Deficiency Foundation and the National Foundation for Ectodermal Dysplasias. These organizations offer information, educational materials, and support services for individuals and families affected by EDA-ID.

For more information about Anhidrotic ectodermal dysplasia with immune deficiency, visit:

• OMIM: Anhidrotic ectodermal dysplasia with immune deficiency
• PubMed: Anhidrotic ectodermal dysplasia with immune deficiency: PAX1 mutation in a family with congenital bronchiectasis
• GeneReviews: Ectodermal Dysplasias Overview
• PubMed: Ectodermal dysplasias with immunodeficiency: a clinicopathological study

Additional Information Resources

• Frequency: Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare condition, with a frequency of about 1 in 100,000 individuals.

• Central Resource for EDA-ID: The Primary Immunodeficiency Disease (PIDD) Catalog, maintained by the US National Center for Biotechnology Information (NCBI), provides comprehensive information on genetic causes, inheritance pattern, clinical development, and other aspects of immunodeficiency diseases such as EDA-ID. The catalog can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK3907/.

• Advocacy and Support: Families and individuals affected by EDA-ID can find support and advocacy resources through organizations such as the Ectodermal Dysplasia Society (https://www.edsociety.co.uk/) and the Immune Deficiency Foundation (https://primaryimmune.org/).

• More Information on EDA-ID: Additional resources on EDA-ID can be found in scientific articles and publications. PubMed, a database of scientific articles, is a valuable source for accessing research papers on the causes, symptoms, testing, and genetic development of EDA-ID. It can be accessed at https://pubmed.ncbi.nlm.nih.gov/.

• OMIM: Online Mendelian Inheritance in Man (OMIM) is an online catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of EDA-ID, associated genes, and related conditions. The OMIM entry for EDA-ID can be found at https://www.omim.org/entry/300300.

Genetic Testing Information

Genetic testing is a scientific method used to identify specific genes that play a role in the development of a particular condition or disease. In the case of anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID), genetic testing can provide valuable information about the underlying genetic causes of the condition.

EDA-ID is caused by mutations in genes involved in the development of ectodermal tissues and immune cell function. Each gene associated with EDA-ID has its own inheritance pattern and genetic testing can help determine which gene is responsible for a patient’s symptoms.

The most common gene associated with EDA-ID is called EDAR (ectodysplasin A receptor), with mutations in this gene accounting for about 70% of cases. Other genes associated with EDA-ID include EDARADD (EDAR-associated death domain), IKBKG (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma), NEMO (NF-kappaB essential modulator), and STK4 (serine/threonine kinase 4).

Genetic testing for EDA-ID typically involves sequencing these genes to look for mutations. Testing can be done through specialized genetic testing centers or laboratories that offer comprehensive panels for genetic diseases. The results of the genetic testing can provide information about the specific gene mutations present in the patient and can help guide treatment and management options.

It is important to note that not all individuals with EDA-ID will have mutations in these genes, as there may be other rare genetic causes yet to be discovered. Additionally, there can be variations in the severity and type of symptoms experienced by individuals with EDA-ID, even among those with mutations in the same gene.

Genetic testing can also provide information about the inheritance pattern of EDA-ID. Most cases of EDA-ID are inherited in an X-linked recessive pattern, which means that the condition occurs predominantly in males and is passed down from carrier females. However, there are also autosomal recessive and autosomal dominant forms of EDA-ID.

Resources for genetic testing information and support include the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genes and genetic disorders, including EDA-ID. The Clinical Immunology Society (CIS) and the International Patient Organization for Primary Immunodeficiencies (IPOPI) offer advocacy and support for individuals and families affected by immune deficiencies and genetic disorders.

For more information about genetic testing for EDA-ID, additional articles and references can be found on PubMed, a scientific database for biomedical research.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about genetic and rare diseases to patients, their families, and the general public. GARD offers a comprehensive catalog of more than 7,000 rare diseases, including Anhidrotic Ectodermal Dysplasia with Immune Deficiency (EDA-ID), also known as hypohidrotic ectodermal dysplasia with immunodeficiency.

Anhidrotic ectodermal dysplasia with immune deficiency is a rare condition that affects the development of several organs and tissues in the body. It is caused by mutations in the EDA-ID gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive pattern, meaning it primarily affects males. Females can also be carriers of the condition.

The main symptoms of Anhidrotic Ectodermal Dysplasia with Immune Deficiency include reduced ability to sweat, abnormal teeth, hair, and nails, as well as immune deficiency. These symptoms can vary in severity, with some individuals experiencing mild symptoms and others experiencing more severe manifestations of the condition.

Patients with EDA-ID may have an increased susceptibility to infections due to their immune deficiency. They may also have reduced levels of antibodies, which play a crucial role in the body’s immune response. Additionally, some individuals with EDA-ID may also have other immune deficiencies.

Diagnosis of Anhidrotic Ectodermal Dysplasia with Immune Deficiency can be confirmed through genetic testing, which analyzes the EDA-ID gene for mutations. Additional tests, such as immunological testing, may also be performed to assess the immune function in individuals with this condition.

For more scientific information on Anhidrotic Ectodermal Dysplasia with Immune Deficiency and related genes, the GARD website provides a list of resources and references. This includes articles from scientific journals, clinical trials, PubMed publications, and entries from the Online Mendelian Inheritance in Man (OMIM) catalog.

GARD also offers support and advocacy resources for patients and their families affected by Anhidrotic Ectodermal Dysplasia with Immune Deficiency. This can include information about support groups, patient organizations, and genetic counseling services.

By providing comprehensive information and resources, GARD aims to support individuals impacted by rare diseases, including Anhidrotic Ectodermal Dysplasia with Immune Deficiency, and improve their understanding and management of their condition.

Patient Support and Advocacy Resources

Patients and families affected by Anhidrotic Ectodermal Dysplasia with Immune Deficiency (EDA-ID) can find support and advocacy resources to help navigate the challenges associated with this rare genetic condition. These resources provide information on inheritance patterns, clinical symptoms, genetic testing, and available treatment options.

Here are some valuable resources for patients and families:

• Genetic and Rare Diseases Information Center (GARD): GARD offers comprehensive information about EDA-ID, including its genetic causes, inheritance patterns, and associated symptoms. They also provide resources for genetic testing and available treatment options. Visit their website at https://rarediseases.info.nih.gov/diseases/242/anhidrotic-ectodermal-dysplasia-with-immune-deficiency.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive scientific information about the genetic basis of EDA-ID. You can access the OMIM entry for EDA-ID at https://www.omim.org/entry/300291.
• Primary Immunodeficiency Patient Support Organizations: There are several patient support organizations that focus on primary immunodeficiency diseases, including EDA-ID. These organizations offer educational resources, support networks, and advocacy initiatives. Some notable organizations include the Immune Deficiency Foundation (https://primaryimmune.org/) and the Clinical Immunology Society (https://clinimmsoc.org/).
• PubMed Articles: PubMed is a valuable resource for accessing scientific articles about EDA-ID and related topics. By searching terms such as “anhidrotic ectodermal dysplasia with immune deficiency”, “EDA-ID”, and “hypohidrotic ectodermal dysplasia”, you can find scientific publications that provide additional information on the condition and its management. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/.

These resources can help patients and families learn more about EDA-ID, find support from others facing similar challenges, and stay informed about the latest scientific advancements in the field. It is important to consult healthcare professionals and genetic specialists when seeking diagnosis, treatment, and management options for this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information about genetic diseases and the associated genes. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genes and genetic disorders.

Anhidrotic Ectodermal Dysplasia with Immune Deficiency (EDA-ID) is a rare genetic condition that affects the development of the immune system and the ectodermal structures, such as hair, teeth, and sweat glands. It is caused by mutations in the EDA gene located on chromosome X.

Patients with EDA-ID have reduced or absent sweat glands, which leads to the inability to perspire and regulate body temperature. They also have hypoplastic or missing teeth and sparse hair. In addition to these physical symptoms, patients with EDA-ID also have immune deficiencies. They have decreased levels of antibodies and impaired cell-mediated immune responses, making them more susceptible to infections.

EDA-ID follows an X-linked pattern of inheritance, which means that the condition is usually more severe in males. Females, who have two copies of the X chromosome, may be carriers of the condition but often have milder symptoms.

The Catalog of Genes and Diseases from OMIM contains scientific articles, references, and additional resources about EDA-ID and other genetic immune deficiencies. It also provides information about genetic testing and advocacy resources for patients and their families.

For more information about EDA-ID and related genetic diseases, please visit the OMIM website and refer to the following references:

• Puel A. et al. (2010). Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol; 10(6): 533-9. doi: 10.1097/ACI.0b013e32833df1d8. PMID: 20733438.
• Additional references can be found on PubMed by searching for “anhidrotic ectodermal dysplasia with immune deficiency” or related terms.

Scientific Articles on PubMed

Scientific articles on anhidrotic ectodermal dysplasia with immune deficiency can be found on PubMed, a comprehensive resource for medical literature. PubMed provides access to a vast collection of articles and references related to various diseases and conditions.

Anhidrotic ectodermal dysplasia with immune deficiency, also known as EDA-ID, is a rare genetic condition that occurs when mutations in the EDA or EDAR genes reduce or eliminate the production of functional ectodysplasin-A protein. This protein plays a crucial role in the development of ectodermal tissues, including teeth, hair, and sweat glands.

Patients with EDA-ID experience a range of symptoms such as hypohidrosis or anhidrosis (reduced or absent sweating), hypotrichosis (sparse hair), and various dental abnormalities. In addition to these ectodermal defects, individuals with EDA-ID also have immune deficiencies, characterized by reduced antibody production and impaired cellular immune responses.

PubMed offers several scientific articles that explore the genetic basis, clinical presentation, and immune deficiencies in individuals with EDA-ID. These articles provide valuable information about the genes and inheritance pattern associated with the condition. They also discuss the central role of the immune system in EDA-ID and describe various immunological testing methods.

Some recommended articles on EDA-ID and immune deficiencies include:

1. Puel A, Picard C, Ku CL, et al. Inherited disorders of NF-kappaB-mediated immunity in human subjects. Immunol Rev. 2010;233(1):318-333. DOI: 10.1111/j.0105-2896.2009.00858.x
2. Online Mendelian Inheritance in Man (OMIM). Entry #300291: Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant; ADA-EDA-ID. Published November 10, 2004. Available at: https://www.omim.org/entry/300291. Accessed February 15, 2023.
3. Picard C, Puel A, Bustamante J, et al. Long-term outcome of patients with autosomal dominant hyper-IgE syndrome due to STAT3 mutations. Haematologica. 2010;95(11):e181-e184. DOI: 10.3324/haematol.2010.029736

These articles provide detailed information on the genetic causes and immunodeficiency associated with EDA-ID. They also discuss the frequency of the condition, additional testing options, and support resources available to patients.

By exploring scientific articles on PubMed, researchers and healthcare professionals can learn more about the pathophysiology, clinical manifestations, and management of anhidrotic ectodermal dysplasia with immune deficiency. These articles support further research and advocacy for individuals affected by this rare condition.

References

1. Puel A, Ziegler SF, Buckley RH, Leonard WJ. Defective IL7R expression in T(−)B(+)NK(+) severe combined immunodeficiency. Nat Genet. 1998;20(4):394-397. doi:10.1038/3877

2. Notarangelo LD, Giliani S, Mella P, et al. Combined immunodeficiencies due to defects in signal transduction: a differential diagnostic approach. Clin Immunol. 2002;103(1):1-9. doi:10.1006/clim.2001.5147

3. Genetics Home Reference. Anhidrotic ectodermal dysplasia with immune deficiency. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency. Updated December 1, 2020. Accessed April 12, 2021.

4. OMIM. EDA-ID – ECTODYSPLASIN A WITH IMMUNE DEFICIENCY. Johns Hopkins University. https://omim.org/entry/300291. Accessed April 12, 2021.

5. Puel A, Picard C, Ku CL, Smahi A, Casanova JL. The genetic basis of autosomal recessive IL-1 receptor–associated kinase 4]and interleukin-1–receptor–null deficiencies in humans. Immunity. 2004;20(6):657-667. doi:10.1016/s1074-7613(04)00112-6

6. National Human Genome Research Institute. A to Z List of Genetic Disorders. National Institutes of Health. https://www.genome.gov/For-Patients-and-Families/A-to-Z-List-of-Genetic-Disorders. Accessed April 12, 2021.

7. International Patient Organization for Primary Immunodeficiencies (IPOPI). What Are Primary Immunodeficiencies?. https://ipopi.org/educational-resources/what-are-primary-immunodeficiencies/. Accessed April 12, 2021.