Slideshows Images Quizzes

Copyright © 2018 by RxList Inc. RxList does not provide medical advice, diagnosis or treatment. See additional information.

Definition of ADA deficiency

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

ADA deficiency: Lack of normal adenosine deaminase (ADA) activity, a genetic (inherited) condition causing one form of severe combined immunodeficiency ((SCID) disease. It is said to be "combined" in that there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules.

The ADA gene is located on chromosome 20 in the region of bands q12-q13.11. The complete sequence and structure of the gene is known. A variety of mutant alleles (altered forms of the gene) have been identified, including base pair substitutions and deletions.

ADA deficiency is of special interest in the history of genetics. The first successful instance of gene therapy in humans was carried out in 1990 by Drs. W. French Anderson, R. Michael Blaise and Kenneth W. Culver who infused genetically engineered blood cells to repair ADA. (Clinical trials in the treatment of ADA deficiency are ongoing. Bone marrow transplant in infancy has proven efficacy.) deficiency.

Reviewed on 12/11/2018

Health Solutions From Our Sponsors