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Disease Profile
Adenosine deaminase deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
D81.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency; Severe combined immunodeficiency due to ADA deficiency;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Metabolic disorders
Summary
Adenosine deaminase deficiency (ADA deficiency) is an
Symptoms
There are some people who have partial ADA deficiency. People with this condition have low amount of ADA
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Absence of lymph node germinal center | 0002849 | |
Absent tonsils | 0030813 | |
Allergy | 0012393 | |
Anti-thyroid peroxidase |
0025379 | |
B lymphocytopenia |
Low B cell count
|
0010976 |
Diarrhea |
Watery stool
|
0002014 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Increased circulating IgE level | 0003212 | |
Inflammatory abnormality of the skin |
Skin inflammation
|
0011123 |
Lack of T cell function | 0005354 | |
Pulmonary insufficiency | 0010444 | |
Recurrent opportunistic infections | 0005390 | |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent pneumonia | 0006532 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Sinusitis |
Sinus inflammation
|
0000246 |
T lymphocytopenia |
Low T cell count
Reduced number of T cells
[ more ] |
0005403 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Absent specific antibody response | 0005424 | |
Anterior rib cupping | 0000907 | |
Aplasia of the thymus |
Absent thymus
|
0005359 |
Asthma | 0002099 | |
Autoimmune |
0001890 | |
Autoimmune |
0001973 | |
0000007 | ||
B-cell lymphoma | 0012191 | |
Decreased circulating IgA level | 0002720 | |
Decreased circulating IgG2 level | 0008348 | |
Decreased circulating total IgM | 0002850 | |
Diffuse mesangial sclerosis | 0001967 | |
Eosinophilia |
High blood eosinophil count
|
0001880 |
Growth arrest lines | 0031164 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Pneumonia | 0002090 | |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Recurrent fungal infections | 0002841 | |
Recurrent viral infections | 0004429 | |
Reduced red cell adenosine deaminase level | 0030273 | |
Severe B lymphocytopenia | 0005365 | |
Severe combined immunodeficiency | 0004430 | |
Somatic mosaicism | 0001442 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Cause
Diagnosis
In children and adults with the mild form of ADA deficiency, the diagnosis is made based on symptoms which include frequent unusual infections, low WBCs in the blood, absent tonsils or
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive
newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics. - Baby's First Test is the nation's newborn
screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information. - US National Newborn Screening Status Report (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Treatment
• Early diagnosis and treatment of bacterial, viral, and fungal infections
• Preventative medications for certain types of pneumonia
• Intravenous (IV) immunoglobulin to boost the body's natural response to infections
• Bone marrow or
•
The primary treatment is transplantation of blood-forming
If a BMT/SCT is not an option,
Gene therapy is also available through
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Pegademase bovine(Brand name: Adagen) Manufactured by Lediant Biosciences
FDA-approved indication: March 1990, pegademase bovine (Adagen) was approved for enzyme replacement therapy for ADA deficiency in patients with severe combined immunodeficiency.
National Library of Medicine Drug Information Portal - Elapegademase-lvlr(Brand name: Revcovi) Manufactured by Leadiant Biosciences, Inc.
FDA-approved indication: October 2018, elapegademase-lvlr (Revcovi) was approved for the treatment of Adenosine Deaminase-Severe Combined Immunodeficiency (ADA-SCID).
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes all forms of SCID.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Canadian Immunodeficiencies Patient Organization (CIPO)
25 La Grave St
Winnepeg, MB
R3V 1J1 Canada
Telephone: 877-262-2476 (toll-free)
Fax: 866-942-7651 (toll-free)
E-mail: https://www.cipo.ca/#contact
Website: https://cipo.ca -
Immune Deficiencies Foundation Australia
PO Box 969
Penrith NSW 2751
Australia
Telephone: 800-100-198
E-mail: [email protected]
Website: https://www.idfa.org.au/ -
International Patient Organization for Primary Immunodeficiencies (IPOPI)
Rock Bottom, Trerieve
Downderry
PL11 3LY
United Kingdom
Telephone: 44-01503-250-668/961
E-mail: [email protected]
Website: https://ipopi.org -
Jeffrey Modell Foundation (JMF)
780 Third Ave
New York, NY 10017
Fax: 212-764-4180
E-mail: [email protected]
Website: https://www.info4pi.org/
JMF is a global patient organization devoted to early and precise diagnosis, meaningful treatments, and ultimately, cures through clinical and basic research, physician education, patient support, advocacy, public awareness and newborn screening.
Organizations Providing General Support
-
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Toll-free: 1-800-296-4433
Fax: +1-410-321-9165
E-mail: https://www.primaryimmune.org/services/ask-idf/
Website: https://www.primaryimmune.org/ -
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: [email protected]
Website: https://www.piduk.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The American Society of Gene & Cell Therapy provides information on the treatment of immunodeficiency diseases.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Adenosine deaminase deficiency. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Adenosine deaminase deficiency. Click on the link to view a sample search on this topic.
References
- Adenosine deaminase deficiency. Genetics Home Reference. July 2013; https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency.
- Hershfield M. Adenosine Deaminase Deficiency. GeneReviews. Mar 2017; https://www.ncbi.nlm.nih.gov/books/NBK1483.
- Kohn DB, Hershfield MS, Puck JM, Aiuti A et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. Sept 2018; available on-line. https://www.ncbi.nlm.nih.gov/pubmed/30194989.
- Rubinstein A. Adenosine deaminase deficiency: Pathogenesis, clinical manifestations, and diagnosis. UpToDate. Nov 2016; https://www.uptodate.com/contents/adenosine-deaminase-deficiency-pathogenesis-clinical-manifestations-and-diagnosis.
- Rubinstein A. Adenosine deaminase deficiency: Treatment. UpToDate. August 2017; https://www.uptodate.com/contents/adenosine-deaminase-deficiency-treatment.
- Scott O, Kim VH-D, Reid B, Pham-Huy A, Atkinson A, Aiuti A, Grunebaum E. Long-term outcome of Adenosine deaminase-deficient patients – a single-center experience. J Clin Immunol. 2017; 37:582-591. https://www.ncbi.nlm.nih.gov/pubmed/28748310.
- Aiuti A, Roncarolo MG, Naldini L. Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products. EMBO Molecular Med. 2017; 9(6):737-740. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5452047.
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