Article
Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation.
Journal of immunology research - 1 Jan 2019
Essadssi Soukaina, Krami Al Mehdi, Elkhattabi Lamiae, Elkarhat Zouhair, Amalou Ghita, Abdelghaffar Houria, Rouba Hassan, Barakat Abdelhamid
Abstract excerpt
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency (PID), characterized by fatal opportunistic infections. The ADA gene encodes adenosine deaminase, an enzyme that catalyzes the irreversible deamination of adenosine and deoxyadenosine in the catabolic pathway of purine. Mutations of the ADA gene have been identified in patients with severe combined immunodeficiency. In...
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