ADA-SCID is typically diagnosed within the first few months of life. Diagnosis is made through a blood test which measures ADA enzyme activity and/or through genetic testing for the gene mutations in a patient with suspected or proven SCID.1 Sometimes, SCID/ADA-SCID is diagnosed later in childhood in less severely affected individuals using the same testing as in infants. A small percentage of patients born with ADA-SCID who are less severely affected may not be detected by Newborn Screening.
Early diagnosis of ADA-SCID is crucial because treatment is most successful in infants who haven’t yet experienced serious infections.2
Signs to look for1, 2
ADA-SCID usually appears during infancy. The most common signs in infants are:
- Slowed growth or failure to thrive
- Serious infections
- Skin rashes
- Chronic diarrhea
- Persistent, oral thrush
A family history of unexplained infant death or infant death due to infection may indicate an inherited immune deficiency, such as ADA-SCID.3
Screening for disorders and conditions that can cause serious health problems starting in infancy or childhood is performed during a newborn’s first few days of life. Early detection and treatment of these disorders can help prevent disability and life-threatening illness.
Diagnosis of ADA-SCID through newborn screening for SCID and subsequent ADA testing can make intervention possible before life-threatening infections occur. Today, all 50 states, the District of Columbia, and Puerto Rico are screening newborns for SCID. The process for newborn screening for SCID uses the same blood spot for other conditions. Newborn Screening may not detect less severe cases of ADA deficiency.
- Hershfield M. Adenosine deaminase deficiency. Gene Reviews [Internet]. Initially posted October 2006; updated March 2017. Available at https://www.ncbi.nlm.nih.gov/books/NBK1483/. Accessed January 8, 2019.
- Blaese MR, Winkelstein JA, eds. Patient & Family Handbook for Primary Immunodeficiency Diseases. 4th ed. Towson, MD: Immune Deficiency Foundation; 2007.
- AlKhater SA. Approach to the child with recurrent infections. J Family Community Med. 2009;16(3):77-82.
Revcovi (elapegademase-lvlr) is indicated for the treatment of adenosine deaminase severe combined immune deficiency (ADA-SCID) in pediatric and adult patients.
Important safety information
Warnings and precautions:
- Injection site bleeding in patients with thrombocytopenia: Increased risk of local bleeding in patients with thrombocytopenia; should not be used if thrombocytopenia is severe.
- Delay in improvement of immune function: Protect immune deficient patients from infections until improvement in immune function.
The most commonly reported adverse reactions were cough and vomiting.
In addition, the following post-marketing reports for the same class of enzyme replacement therapy used in the treatment of ADA-SCID, may also be seen with Revcovi treatment:
- Hematologic events: hemolytic anemia, autoimmune hemolytic anemia, thrombocythemia, thrombocytopenia and autoimmune thrombocytopenia
- Dermatological events: injection site erythema, urticaria
Important monitoring information:
Treatment with Revcovi should be monitored by measuring trough plasma ADA activity and trough dAXP levels for maintenance of therapeutic targets. If a persistent decline in plasma ADA activity occurs, immune function and clinical status should be monitored closely, and precautions should be taken to minimize the risk of infection.
Please refer to Revcovi’s Full Prescribing Information.