Adenosine deaminase deficiency

Adenosine deaminase deficiency is a rare genetic condition that affects the immune system. It leads to severe combined immunodeficiency, a condition where the immune system is unable to function properly. This deficiency is caused by mutations in the ADA gene, which is responsible for producing the adenosine deaminase enzyme.

Children with adenosine deaminase deficiency have a decreased number of lymphoid cells, which are essential for a healthy immune system. As a result, they are more susceptible to infections and may experience recurring respiratory and severe systemic infections. Additionally, affected individuals may also have delayed growth and development, as well as other signs and symptoms associated with immune system dysfunction.

Diagnosis of adenosine deaminase deficiency can be confirmed through genetic testing, which identifies the specific mutations in the ADA gene. There are also additional resources available for patients and their families, such as support groups, advocacy centers, and research centers that provide information on the condition, treatment options, and ongoing clinical trials.

For more scientific information about adenosine deaminase deficiency, you can refer to articles published in PubMed or OMIM, which is a catalog of human genes and genetic disorders. These resources provide a wealth of information about the condition, including its inheritance pattern, associated diseases, and more.

Frequency

Adenosine deaminase deficiency is a rare genetic condition. According to data from PubMed, the frequency of this deficiency is estimated to be approximately 1 in 20,000 to 1 in 100,000 live births. It is important to note that these numbers can vary depending on the population and region being studied.

Being a genetic condition, adenosine deaminase deficiency is inherited in an autosomal recessive manner. This means that both parents need to carry a copy of the defective gene in order for their child to be affected. It can affect individuals of any gender or ethnicity.

Given the rarity of this condition, it is important for affected individuals, their families, and healthcare professionals to access reliable resources to learn more about adenosine deaminase deficiency. Some of the resources that provide information, support, and genetic testing options include:

• OMIM (Online Mendelian Inheritance in Man)
• PubMed (scientific articles and studies)
• ClinicalTrials.gov (information on ongoing research and clinical trials)
• Advocacy organizations and patient support groups

Adenosine deaminase deficiency is associated with severe combined immunodeficiency (SCID), a condition characterized by a severely weakened immune system. It affects the development and function of lymphoid cells, leading to increased susceptibility to infections. Early diagnosis and treatment can greatly improve the prognosis of affected children.

Delayed growth and development, recurrent infections, and signs of immune dysfunction are some of the common symptoms associated with adenosine deaminase deficiency. Genetic testing can confirm the diagnosis and provide information about the specific gene mutations involved.

Throughout the years, scientific research has contributed to a better understanding of this condition. By studying the ADA gene and its associated genetic changes, researchers have gained insights into the causes, clinical manifestations, and potential treatment options for adenosine deaminase deficiency.

Causes

Adenosine deaminase deficiency is a rare genetic condition that affects the immune system. It is also known as ADA deficiency or severe combined immunodeficiency due to ADA deficiency (SCID-ADA).

The condition is caused by mutations in the ADA gene, which provides instructions for producing the adenosine deaminase enzyme. This enzyme is responsible for breaking down a molecule called adenosine, which is produced during cellular metabolism.

When the ADA gene is mutated, adenosine and its byproducts build up in the body, leading to toxic levels. This buildup primarily affects the function of lymphoid cells, which are responsible for the production of immune cells.

Adenosine deaminase deficiency is inherited in an autosomal recessive manner, meaning that both copies of the ADA gene must be mutated to develop the condition. Individuals who inherit one mutated copy of the gene are carriers and are usually unaffected.

Research and scientific studies have provided additional information about the causes and inheritance of ADA deficiency. The OMIM catalog and PubMed articles are excellent resources to learn more about the genetic basis of this condition.

Genetic testing can be performed to diagnose adenosine deaminase deficiency in children suspected of having the condition. This testing can identify the specific mutations in the ADA gene that are responsible for the disorder.

Other genetic diseases can present with similar clinical signs and symptoms to ADA deficiency. Additional testing and evaluation may be necessary to differentiate between these conditions.

Advocacy organizations and research centers dedicated to genetic diseases provide valuable information and resources for patients and families affected by adenosine deaminase deficiency.

References:

1. OMIM – Adenosine deaminase deficiency: https://www.omim.org/entry/102700
2. PubMed articles on ADA deficiency: https://pubmed.ncbi.nlm.nih.gov/?term=adenosine+deaminase+deficiency
3. ClinicalTrials.gov – ADA deficiency: https://clinicaltrials.gov/ct2/results?cond=adenosine+deaminase+deficiency
4. The Journal of Allergy and Clinical Immunology – ADA deficiency: https://www.jacionline.org/keyword/adenosine-deaminase-deficiency

Learn more about the gene associated with Adenosine deaminase deficiency

Adenosine deaminase deficiency is a rare genetic condition that causes a severe form of immunodeficiency. This condition is caused by mutations in the ADA gene, which provides instructions for producing the adenosine deaminase enzyme. Adenosine deaminase plays a critical role in the development and function of lymphoid cells, which are important for the immune system.

Children affected by Adenosine deaminase deficiency have a delayed onset of signs and symptoms, usually presenting in the first six months of life. Without sufficient adenosine deaminase activity, toxic levels of adenosine and deoxyadenosine build up in the body, leading to damage of lymphoid cells and impaired immune function.

To learn more about the ADA gene and Adenosine deaminase deficiency, there are several additional resources available:

• Scientific Studies: Numerous studies have been conducted to understand the genetic basis and mechanisms of Adenosine deaminase deficiency. These studies can provide in-depth information about the condition and its underlying causes.
• PubMed: PubMed is a widely used database for accessing scientific research articles. Searching for “Adenosine deaminase deficiency” or “ADA gene” can provide access to relevant scientific studies.
• OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive online resource that provides detailed information about genetic diseases, including Adenosine deaminase deficiency. It includes information about the ADA gene, inheritance patterns, and clinical features of the condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. It may have information about current research and new treatment approaches for Adenosine deaminase deficiency.
• Patient Support and Advocacy: Various organizations provide support and resources for individuals and families affected by Adenosine deaminase deficiency. These organizations can provide additional information and connect individuals with others who have similar experiences.

Learning more about the gene associated with Adenosine deaminase deficiency can help researchers, healthcare professionals, and affected individuals better understand the condition and develop new treatment strategies.

Inheritance

Adenosine deaminase deficiency is an inherited genetic condition caused by mutations in the ADA gene. This genetic condition affects the function of the adenosine deaminase enzyme, which is responsible for breaking down adenosine in the body. When the ADA gene is mutated, the enzyme is deficient, leading to the buildup of toxic levels of adenosine and other metabolites.

The inheritance pattern of adenosine deaminase deficiency is autosomal recessive, meaning that both copies of the gene must be mutated in order for the condition to be present. This means that individuals who inherit one mutated ADA gene from one parent and one normal ADA gene from the other parent are carriers of the disease but do not typically show symptoms. However, when two carriers have a child together, there is a 25% chance that the child will inherit two mutated ADA genes and have the condition.

Research studies have shown that adenosine deaminase deficiency is a rare genetic condition, with an estimated frequency of 1 in 200,000 to 1 in 1,000,000 live births. The condition is more commonly associated with consanguineous marriages, where individuals with a common ancestor have children together.

Genetic testing is often used to diagnose adenosine deaminase deficiency in patients with lymphoid and immunodeficiency diseases. This testing can identify mutations in the ADA gene that are associated with the condition and help confirm the diagnosis.

There are additional resources available for patients and families affected by adenosine deaminase deficiency. The Adenosine Deaminase Deficiency Association (ADDA) is a patient advocacy and support center that provides information, resources, and support for individuals with this condition. The organization also promotes research and clinical trials to learn more about adenosine deaminase deficiency and develop new treatments.

ClinicalTrials.gov is a valuable resource for finding more information about ongoing research studies and clinical trials related to adenosine deaminase deficiency. These studies aim to understand the causes, signs, and treatment options for this rare genetic condition. PubMed and OMIM are scientific databases that provide references to articles and studies on adenosine deaminase deficiency and related topics.

Other Names for This Condition

Adenosine deaminase deficiency, also known as ADA deficiency, is a rare genetic condition associated with severe combined immunodeficiency (SCID). It is caused by mutations in the ADA gene, which leads to a deficiency of the enzyme adenosine deaminase.

Adenosine deaminase deficiency is also sometimes referred to as ADA-SCID or ADA deficiency SCID.

Some other names used for this condition include:

• ADA deficiency
• ADA immunodeficiency
• ADA-SCID deficiency
• Adenosine deaminase 2 deficiency
• Adenosine deaminase 2 immunodeficiency
• Lymphoid ADA deficiency

These additional names may be used in different research studies or clinical trials to catalog and reference the condition.

For more scientific information about Adenosine deaminase deficiency and other related genetic diseases, you can learn more from resources such as PubMed, which provides access to articles and research studies. ClinicalTrials.gov is another valuable resource, where you can find information about ongoing clinical trials and studies related to this condition.

Support and advocacy organizations, such as the Immune Deficiency Foundation, may also provide helpful information and resources for patients and families affected by adenosine deaminase deficiency and other rare genetic conditions.

Additional Information Resources

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic diseases. It offers detailed information about adenosine deaminase deficiency and other associated conditions.

• PubMed: PubMed is a database of scientific articles and studies. It contains numerous articles about adenosine deaminase deficiency, its causes, clinical presentations, and more. These studies can provide valuable insights into the genetic, immunological, and clinical aspects of the condition.

• ClinicalTrials.gov: This online resource provides information about ongoing and completed clinical trials related to adenosine deaminase deficiency. Patients and families affected by this rare genetic condition can explore potential research opportunities and learn about new treatment options.

• Genetic Testing Centers: Genetic testing centers, such as the National Center for Biotechnology Information (NCBI), offer genetic testing services to diagnose adenosine deaminase deficiency and other related conditions. These centers can provide important information about inheritance patterns, genetic counseling, and support for affected individuals and their families.

• Immunodeficiency Advocacy and Support Organizations: Various advocacy and support organizations focus on raising awareness about adenosine deaminase deficiency and supporting patients and families affected by the condition. These organizations can provide additional resources, educational materials, and emotional support to enhance the quality of life for individuals with adenosine deaminase deficiency.

• Scientific Articles and Research Studies: Numerous scientific articles and research studies are available that delve into the genetic, immunological, and clinical aspects of adenosine deaminase deficiency. These publications can provide in-depth information about the condition and contribute to ongoing research efforts.

Genetic Testing Information

Genetic testing for Adenosine Deaminase Deficiency (ADA) is the process of analyzing an individual’s DNA to identify specific changes or mutations in the ADA gene. This testing can help diagnose the condition, determine the genetic cause, and provide important information for treatment and management of the disease.

There are multiple genetic tests available for ADA deficiency, including sequence analysis of the ADA gene, deletion/duplication analysis, and carrier testing for at-risk family members. These tests can be conducted using different methods, such as DNA sequencing or targeted mutation analysis.

Genetic testing is recommended for individuals with symptoms or signs of ADA deficiency, individuals with a family history of the condition, and individuals with a positive newborn screening result for ADA deficiency. Testing is also important for affected individuals to guide proper management, provide genetic counseling, and offer support for families affected by the condition.

There are several resources available for more information on genetic testing for ADA deficiency. The Genetic Testing Registry (GTR) provides a catalog of genetic tests for ADA deficiency, including information on test names, methods, and associated genes. The Online Mendelian Inheritance in Man (OMIM) database also offers information on the genetic inheritance, genes, and mutations associated with ADA deficiency.

In addition to these resources, there are clinical research studies and advocacy organizations focused on ADA deficiency. ClinicalTrials.gov is a valuable resource for information on ongoing clinical trials and research studies related to ADA deficiency. Patient advocacy groups and support organizations can also provide valuable information, resources, and support for individuals and families affected by ADA deficiency.

Genetic testing plays a crucial role in the diagnosis and management of ADA deficiency. It provides information about the genetic causes of the condition, helps identify affected individuals, and guides treatment options. Through ongoing research and advancements in genetic testing, more information continues to emerge about ADA deficiency and its associated genes, leading to improved understanding and care for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides valuable resources and information on genetic and rare diseases for patients, families, healthcare professionals, and researchers. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Adenosine deaminase deficiency is a rare genetic immunodeficiency condition that affects the lymphoid cells in the body. It is caused by mutations in the ADA gene, which is responsible for producing the enzyme adenosine deaminase. This enzyme plays a crucial role in the normal functioning of the immune system.

Patients with adenosine deaminase deficiency have a severe immunodeficiency, which leaves them susceptible to frequent and severe infections. The signs and symptoms of this condition can vary from mild to severe and may include recurrent respiratory infections, delayed growth and development, and neurological abnormalities.

Children with adenosine deaminase deficiency are typically diagnosed in infancy or early childhood. The diagnosis is confirmed through genetic testing, which can identify mutations in the ADA gene.

Treatment options for adenosine deaminase deficiency include enzyme replacement therapy, which can help restore the function of the immune system. Stem cell transplantation may also be recommended for some patients.

For more information on adenosine deaminase deficiency and other rare diseases, GARD offers a wide range of resources, including articles, genetic testing information, clinical studies, and support groups. GARD also provides links to additional scientific and advocacy resources, such as PubMed and OMIM, for further learning and research.

References:

1. Adenosine Deaminase Deficiency. Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/5758/adenosine-deaminase-deficiency.
2. Adenosine Deaminase Deficiency. OMIM. Retrieved from https://www.omim.org/entry/102700.
3. Adenosine Deaminase Deficiency. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Adenosine+Deaminase+Deficiency.
4. ClinicalTrials.gov. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/.

Patient Support and Advocacy Resources

Individuals and families affected by Adenosine Deaminase Deficiency (ADA) deficiency can find support and advocacy through various resources. These resources provide valuable information, support, and assistance to patients and their families throughout their journey with this rare genetic condition.

Support Centers

• ADA-SCID.org – This website is dedicated to providing support and resources to families affected by ADA deficiency. It offers information on the condition, treatment options, and patient stories.
• Genetic and Rare Diseases Information Center – This center provides information and resources on various genetic and rare diseases, including ADA deficiency. It offers an extensive database of articles, clinical trials, and support groups.

ClinicalTrials.gov

ClinicalTrials.gov is a valuable resource for individuals looking for additional information on ongoing clinical trials related to ADA deficiency. It provides information on trial status, eligibility criteria, and contact information for participating centers.

Patient Advocacy Organizations

• ADA Foundation – This organization focuses on raising awareness about ADA deficiency and advocating for improved diagnosis, treatment, and support for affected individuals.
• Immune Deficiency Foundation (IDF) – IDF provides support and advocacy for individuals with various immunodeficiency diseases, including ADA deficiency. They offer educational resources, support groups, and assistance with insurance and financial concerns.

Scientific Research and Publications

Scientific research and publications can provide valuable insights into the causes, inheritance patterns, and treatment options for ADA deficiency. Some recommended resources include:

• OMIM (Online Mendelian Inheritance in Man) – This database provides comprehensive information on genetic disorders, including ADA deficiency. It includes genetic and clinical information, inheritance patterns, and references to scientific studies.
• PubMed – PubMed is a database of scientific publications and articles. Searching for keywords such as “adenosine deaminase deficiency” or “ADA deficiency” can provide access to the latest research and studies on the condition.

It is important for individuals and families affected by ADA deficiency to educate themselves about the condition, stay informed about the latest research and treatment options, and connect with support groups and advocacy organizations. These resources can provide a wealth of information, support, and assistance throughout their journey with ADA deficiency.

Research Studies from ClinicalTrialsgov

Adenosine deaminase deficiency is a rare genetic condition associated with severe combined immunodeficiency (SCID). SCID is a group of inherited disorders characterized by the absence or severely reduced function of immune system cells, particularly lymphocytes. The deficiency of adenosine deaminase (ADA) leads to the buildup of toxic substances in lymphoid cells, which results in a malfunctioning immune system.

ClinicalTrialsgov is a valuable resource for finding information about research studies and clinical trials related to adenosine deaminase deficiency. These studies aim to understand the genetic causes, clinical manifestations, and potential treatments for this rare condition.

Through the ClinicalTrialsgov website, researchers and scientists can access information about ongoing and completed studies related to adenosine deaminase deficiency. The website provides detailed descriptions of the studies, including their purpose, eligibility criteria, location, and contact information for the study center. By participating in these studies, patients and their families can contribute to scientific research and gain access to potential novel therapies.

Some of the ongoing research studies focus on evaluating the safety and efficacy of gene therapy as a potential treatment for adenosine deaminase deficiency. Gene therapy involves introducing functional ADA genes into the patient’s cells to correct the genetic defect. These studies aim to assess the long-term effects and durability of gene therapy in restoring immune function.

In addition to gene therapy, other studies investigate the use of enzyme replacement therapy, which involves administering synthetic ADA to patients with the deficiency. These studies aim to determine the optimal dosage and frequency of enzyme replacement therapy for improving immune function in affected individuals.

ClinicalTrialsgov also provides supporting resources such as articles, references, and scientific publications about adenosine deaminase deficiency. These resources can help researchers and healthcare professionals stay updated with the latest advancements and findings in the field.

Furthermore, the website offers links to related resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where users can find more detailed information and studies about the genetics, clinical manifestations, and inheritance of adenosine deaminase deficiency.

Overall, ClinicalTrialsgov serves as a central hub for researchers, patients, and advocacy groups interested in furthering the understanding and treatment of adenosine deaminase deficiency. By providing access to ongoing research studies, clinical trials, and supporting resources, the website facilitates collaboration and knowledge exchange among the scientific community.

References:

• “Adenosine Deaminase Deficiency.” OMIM. Retrieved from https://omim.org/entry/102700.
• “Adenosine Deaminase Deficiency.” Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/5759/adenosine-deaminase-deficiency.

Catalog of Genes and Diseases from OMIM

In the study of rare genetic diseases, it is crucial to have access to comprehensive resources that provide information about the genes and associated diseases. OMIM (Online Mendelian Inheritance in Man) is a valuable database that catalogs genetic disorders and their corresponding genes.

OMIM provides a wealth of information about various genetic conditions, including Adenosine Deaminase Deficiency, a severe immunodeficiency disorder. This condition affects the lymphoid cells and leads to the impaired function of the immune system. Children with this condition may present with signs of severe infections throughout their lives.

The OMIM catalog includes articles, research studies, and additional resources related to Adenosine Deaminase Deficiency. It provides information about the frequency of the condition, its inheritance patterns, and the genetic causes associated with it. OMIM also lists the various names and scientific identifiers for the genes involved.

For patients and their families, OMIM can be a valuable source of information about the signs, testing, and management of Adenosine Deaminase Deficiency. It also provides links to advocacy and support organizations that can help individuals affected by this condition.

In addition to Adenosine Deaminase Deficiency, OMIM catalogues a wide range of other rare genetic diseases. It serves as a central repository of information, making it easier for researchers and clinicians to access the latest knowledge and findings in the field of genetic medicine.

OMIM is an invaluable tool for both healthcare professionals and individuals who want to learn more about genetic conditions. The database provides comprehensive information about rare genes and diseases, aiding in diagnosis, treatment, and research. It can be accessed online at the OMIM website, and it is regularly updated with new scientific discoveries and clinical trials.

For more information about Adenosine Deaminase Deficiency and other genetic diseases, please refer to the OMIM catalog.

Scientific Articles on PubMed

Adenosine deaminase deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the ADA gene.

There is a significant amount of scientific research focused on understanding the causes, inheritance patterns, and clinical manifestations of adenosine deaminase deficiency. These studies aim to improve diagnosis and testing for this condition, and to provide better support and resources for patients and their families.

Scientists have identified other genes that may be associated with adenosine deaminase deficiency and related immune disorders. Research in this field is ongoing, with new studies being published regularly on PubMed, a widely used database for scientific articles.

Some of the articles on PubMed provide detailed information about the signs and symptoms of adenosine deaminase deficiency, as well as the delayed development of T lymphoid cells. Others discuss the genetic basis of the condition and the inheritance patterns observed in affected individuals.

In addition to scientific articles, there are also resources available through clinicaltrialsgov and OMIM, which provide information about ongoing clinical trials and genetic catalog data related to adenosine deaminase deficiency.

Advocacy groups and patient support organizations play a crucial role in spreading awareness about adenosine deaminase deficiency and providing support to affected individuals and their families. These organizations offer resources and information for patients and their healthcare providers.

Overall, the scientific articles available on PubMed provide valuable insights into the genetic and immunological aspects of adenosine deaminase deficiency. They contribute to our understanding of the condition and help guide future research and clinical practices.

References

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References

• Nofziger C, et al. Adenosine deaminase deficiency – more than just an immunodeficiency. Immunol Rev. 2019;287(1): 160-181. doi: 10.1111/imr.12769
• Hershfield MS. Adenosine-deaminase- deficient severe combined immunodeficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1483/
• Rao VK, et al. Review of adenosine deaminase deficiency. Pediatr Allergy Immunol. 2008;19(5): 545-554. doi: 10.1111/j.1399-3038.2008.00721.x
• Ahmadian Heris M, et al. Adenosine deaminase deficiency in genetic counseling practice: Information and recommendations. Adv Biomed Res. 2018;7: 115. doi: 10.4103/abr.abr_42_18
• Immune Deficiency Foundation. Adenosine Deaminase Deficiency. https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/adenosine-deaminase-ad-Scid/. Accessed September 3, 2022.
• Genetics Home Reference. Adenosine deaminase deficiency. https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency. Updated February 2019. Accessed September 3, 2022.
• Orphanet. Adenosine deaminase deficiency. https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=742&Disease_Disease_Search_diseaseGroup=Adenosine-deaminase-deficiency&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/synonymous=Adenosine-deaminase-deficiency&title=Adenosine-deaminase-deficiency&search=Disease_Search_Simple. Accessed September 3, 2022.
• PubMed. Search results for adenosine deaminase deficiency. https://pubmed.ncbi.nlm.nih.gov/?term=adenosine+deaminase+deficiency. Accessed September 3, 2022.
• OMIM. Adenosine Deaminase Deficiency. https://omim.org/entry/102700. Accessed September 3, 2022.
• National Institutes of Health. Adenosine Deaminase Deficiency. ClinicalTrials.gov. https://clinicaltrials.gov/ct2/results?cond=Adenosine+Deaminase+Deficiency&term=&cntry=&state=&city=&dist=. Accessed September 3, 2022.