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UNDERSTANDING ADA-SCID
Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) is a rare inherited condition that disrupts the immune system. It occurs when the ADA gene, responsible for producing a vital enzyme, doesn’t function correctly.
HOW ADA-SCID IMPACTS THE BODY
THE ROLE OF THE ADA ENZYME
Normally, the ADA enzyme removes toxic byproducts created during cell activity. This process is essential for maintaining healthy immune cells.
WHAT HAPPENS IN ADA-SCID
A faulty ADA gene leads to little or no enzyme activity. Toxic substances, like deoxyadenosine, build up in the body.
EFFECT ON THE IMMUNE SYSTEM
The toxic buildup damages lymphocytes (a type of white blood cell). Without enough lymphocytes, the immune system cannot protect against infections.
WHY THIS MATTERS
Without treatment, infections become frequent and life-threatening. Early intervention can restore immune function and improve quality of life.
How ADA_SCID Impacts the Body
Spotting ADA-SCID Early
SPOTTING
ADA-SCID EARLY
Early detection is key to managing ADA-SCID, a rare disorder affecting 1 in 200,000 to 1 million newborns worldwide. In the U.S., newborn screening—available in all 50 states, D.C., and Puerto Rico—helps identify cases shortly after birth.​​​
STEPS TO DIAGNOSE
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Blood Tests – Measure enzyme activity to detect ADA deficiency.
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Genetic Testing – Confirms changes in the ADA gene.
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Prenatal Testing – Considered for families with a history of immune disorders.
SIGNS OF ADA-SCID
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Frequent, severe infections (respiratory, ear, skin, gastrointestinal)
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Chronic diarrhea and failure to thrive
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Delayed development
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Unusual reactions to vaccines
ADA-SCID MANAGEMENT
& TREATMENT
Managing ADA-SCID requires thoughtful planning, but with appropriate care and support, individuals can lead meaningful lives.
Effective management of ADA-SCID includes minimizing exposure to infections through proper hygiene, building support networks for shared experiences and guidance, and working closely with a medical team to monitor health and adjust care plans as needed.
Medical advancements also offer several approaches to manage or cure ADA-SCID. Each treatment option has unique considerations, and healthcare providers can guide families toward the best choice based on individual needs.
THERAPEUTIC PIPELINE
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