Browse Medications by Medical Condition: adenosine deaminase severe combined immune deficiency (ADA-SCID)
Written by Amar Lunagaria
Pharm.D • NiHowdy Founder
Reviewed by James Wong
Pharm.D • NiHowdy Founder
Updated Jan 27, 2025
•Published Jan 15, 2025
Fact checkedWhat is adenosine deaminase severe combined immune deficiency (ADA-SCID)?
Adenosine Deaminase Severe Combined Immune Deficiency, or ADA-SCID, is a rare genetic disorder that results in a severely compromised immune system. It occurs due to mutations in the ADA gene, which leads to a deficiency in the enzyme adenosine deaminase. This enzyme is critical for the development and function of immune cells. Without it, toxic substances accumulate, destroying lymphocytes and leaving individuals highly susceptible to infections. ADA-SCID typically presents in infancy and is life-threatening if left untreated.
History of adenosine deaminase severe combined immune deficiency (ADA-SCID)?
ADA-SCID was first described in the 1970s as one of the causes of Severe Combined Immune Deficiency (SCID). Research into the molecular basis of the condition revealed the role of the ADA gene and its critical enzyme. ADA-SCID was also among the first genetic disorders to be treated with enzyme replacement therapy in the 1980s and later became a pioneer in gene therapy research during the 1990s. These advancements significantly improved survival rates and quality of life for affected individuals.
What causes adenosine deaminase severe combined immune deficiency (ADA-SCID)?
ADA-SCID is caused by mutations in the ADA gene, which provides instructions for producing adenosine deaminase. This enzyme is essential for breaking down deoxyadenosine, a toxic byproduct of cellular metabolism. When ADA activity is deficient, deoxyadenosine accumulates, leading to the destruction of lymphocytes, particularly T and B cells, which are vital for immune function. The condition is inherited in an autosomal recessive manner, meaning both parents must pass on a defective copy of the ADA gene.
Risk factors for adenosine deaminase severe combined immune deficiency (ADA-SCID)
The primary risk factor for ADA-SCID is having parents who are carriers of mutations in the ADA gene. Carrier screening is available for families with a known history of the condition. There is no association with lifestyle or environmental factors, as ADA-SCID is entirely genetic in origin. Consanguinity (marriage between close relatives) may increase the risk of inheriting genetic disorders like ADA-SCID in certain populations.
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How to prevent adenosine deaminase severe combined immune deficiency (ADA-SCID)
As ADA-SCID is a genetic disorder, prevention focuses on genetic counseling and carrier screening for at-risk families. Preimplantation genetic testing during in vitro fertilization (IVF) allows for the selection of embryos without the genetic mutation. Early newborn screening programs can also identify affected infants, enabling timely treatment before severe infections or complications arise.
Symptoms of adenosine deaminase severe combined immune deficiency (ADA-SCID)
As ADA-SCID is a genetic disorder, prevention focuses on genetic counseling and carrier screening for at-risk families. Preimplantation genetic testing during in vitro fertilization (IVF) allows for the selection of embryos without the genetic mutation. Early newborn screening programs can also identify affected infants, enabling timely treatment before severe infections or complications arise.
When to see a doctor about adenosine deaminase severe combined immune deficiency (ADA-SCID)
How is adenosine deaminase severe combined immune deficiency (ADA-SCID) diagnosed?
ADA-SCID is diagnosed through a combination of clinical presentation, laboratory tests, and genetic analysis. Blood tests reveal low levels of T, B, and natural killer (NK) cells, as well as elevated toxic metabolites. Genetic testing confirms mutations in the ADA gene. In many regions, newborn screening programs now include tests for SCID, enabling earlier diagnosis and treatment.
Treatment options for adenosine deaminase severe combined immune deficiency (ADA-SCID)
Treatment for ADA-SCID aims to restore immune function and prevent infections. Options include:
- Enzyme Replacement Therapy (ERT): Regular injections of PEG-ADA provide the missing enzyme, offering temporary relief.
- Bone Marrow or Stem Cell Transplantation: This curative approach replaces defective immune cells with healthy donor cells but requires a compatible donor.
- Gene Therapy: A cutting-edge treatment that modifies the patient's own stem cells to restore ADA production, eliminating the need for a donor.
- Supportive care includes prophylactic antibiotics, antifungals, and immunoglobulin replacement therapy to reduce infection risks.
List of drugs for adenosine deaminase severe combined immune deficiency (ADA-SCID)
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Medications used to treat adenosine deaminase severe combined immune deficiency (ADA-SCID)?
Medications used in ADA-SCID include enzyme replacement therapies like PEG-ADA, which help manage symptoms by breaking down toxic metabolites. Immunoglobulin replacement therapy is administered to compensate for the lack of antibodies. Prophylactic antibiotics and antifungals protect against infections, while antiviral medications are used as needed to address active infections.
Lifestyle adjustments for managing adenosine deaminase severe combined immune deficiency (ADA-SCID)
Individuals with ADA-SCID and their families must take precautions to avoid infections. This includes maintaining a clean, sanitized environment, limiting exposure to crowds, and practicing good hygiene. A balanced diet and adequate hydration support overall health, while regular follow-ups with a healthcare provider ensure optimal management of the condition.
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Indirect and direct costs associated with adenosine deaminase severe combined immune deficiency (ADA-SCID)?
The costs associated with ADA-SCID are significant. Direct costs include enzyme replacement therapy, genetic testing, hospitalizations, and bone marrow or stem cell transplantation. Indirect costs involve caregiver time, loss of parental income, and long-term management expenses. Advances in gene therapy offer potential cost savings by providing a one-time curative solution, but its accessibility remains a challenge.
Living with adenosine deaminase severe combined immune deficiency (ADA-SCID)?
Living with ADA-SCID requires careful management to ensure the best possible quality of life. Families must work closely with healthcare providers to monitor immune function, prevent infections, and manage treatments. Psychological support for both the patient and family members is essential, as the condition can be emotionally and physically taxing. Advocacy groups and community resources can offer additional support.
Support resources for patients with adenosine deaminase severe combined immune deficiency (ADA-SCID)
Resources for individuals and families affected by ADA-SCID include organizations like the Immune Deficiency Foundation and SCID Angels for Life. These groups provide educational materials, support networks, and access to clinical trials. Genetic counselors and specialized immunology clinics also play a crucial role in guiding families through diagnosis and treatment options.
The future of research for adenosine deaminase severe combined immune deficiency (ADA-SCID)
Research into ADA-SCID is focused on improving treatments and expanding access to curative therapies. Advances in gene therapy are revolutionizing care, offering long-term solutions without the need for ongoing enzyme replacement or donor transplants. Researchers are also exploring novel techniques to enhance the safety and efficacy of bone marrow transplantation, as well as improving early diagnostic tools through expanded newborn screening programs.
Innovations in care for adenosine deaminase severe combined immune deficiency (ADA-SCID)
Innovations in ADA-SCID care include the refinement of gene-editing technologies like CRISPR to correct ADA mutations at the DNA level. Improved stem cell delivery systems are enhancing the effectiveness of gene therapies. Additionally, advancements in enzyme replacement formulations aim to reduce the frequency of administration, improving the quality of life for patients. These developments hold promise for a brighter future for those affected by ADA-SCID.
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