Adenosine Deaminase Deficiency
What is Adenosine Deaminase Deficiency?
Adenosine Deaminase Deficiency (ADA) is a genetically inherited condition that causes the patient to lack immunity to nearly most all bacteria, fungi, and viruses. This condition is known as Severe Combined Immunodeficiency (SCID). Patients with SCID are prone to opportunistic infections and some can be life threatening to the SCID patient.
Patients with ADA don’t make an enzyme that helps their white blood cells fight off infections.
What are the symptoms of Adenosine Deaminase Deficiency?
Adenosine Deaminase Deficiency symptoms start early in a babies life with infections in different areas of the body:
- Sinus infections
- Ear infections
- Skin infections
- Infections of the mouth
- Lung infections
Symptoms should be evaluated and medical attention should be sought if they are: sever, long-lasting, unusual and occur frequently.
ADA-SCID patients will present with skin rashes and diarrhea. Some may see delayed developmental and physical growth.
What causes Adenosine Deaminase Deficiency?
Adenosine Deaminase Deficiency is a genetically inherited disorder. the manner in whiche the disease is inherited is in an autosomal recessive manner, meaning both sets of parents contributed a faulty ADA gene.
In general, each of the patients parents are carriers of the disease and do not exhibit the symptoms or signs of the disease.
How is Adenosine Deaminase Deficiency diagnosed?
Most infants born in the U.S. are screened for severe combined immune deficiency (SCID). Adenosine Deaminase Deficiency is one common cause of SCID, so a positive SCID test would lead to a blood test for ADA deficiency. In some cases, a genetic test may be used to confirm the diagnosis.
What are the treatments for Adenosine Deaminase Deficiency?
Adenosine Deaminase Deficiency can be cured by stem cell transplant. Stem cells from a donor (usually, a close relative) are put into the patient’s body to strengthen and reconstruct the faulty immune system of the patient.
Doctors will presrcibe antibiotics, antifungal and antiviral medications for current infections. They may also provide antibiotics to stave off new diseases.
Ensyme Replacement Therapy (ERT) has shown some promise in assisting the weakened immune system, but it is not a cure.
Where can I find out more about Adenosine Deaminase Deficiency?
Adenosine Deaminase Deficiency Articles
Strimvelis Gene Therapy for ADA-SCID Connected to Leukemia Case
Follow-up from ADA-SCID Trial Shows Impressive Results Compared to Historical Data
Over 5 Million Dollars to go to Gene Therapy Research for SCID
