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ADA2 Protein Deficiency - Frequently Asked Questions

Q: Which Doctors Treat ADA2 Deficiency?

A: ADA2 deficiency is treated by a physician or pediatrician experienced in treating such cases. A definite diagnosis may be made by a geneticist. Further referrals may be made depending on the organ affected.

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Q: What is the Outcome of ADA2 Deficiency?

A: Mild cases of ADA2 deficiency may be able to lead a normal life. Severe deficiency can cause repeated complications like stroke etc. in childhood and result in disability like blindness and deafness, and even death.

Q: Is ADA2 the same as ADA1?

A: Both ADA1 and ADA2 are variants of the same enzyme, adenosine deaminase. Deficiency of ADA2 causes an inflammatory reaction, while deficiency of ADA1 is associated with reduced immunity and results in a condition called severe combined immunodeficiency syndrome.


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