Investigation of adenosine deaminase deficiency and its relationship with Mycobacterium tuberculosis (TB)
Investigation of adenosine deaminase deficiency and its relationship with Mycobacterium tuberculosis (TB)
Sara Najjar noghabi,1,*Jina Khayatzadeh,2
1. Iran, Mashhad, University Islamic Azad , Mashhad Branch ,Department of Biology 2. Iran, Mashhad, University Islamic Azad , Mashhad Branch ,Department of Biology
Introduction: An autosomal recessive disorder is adenosine deaminase 2 (DADA2) deficiency, a monogenic disease caused by mutations in the ADA gene, first described in 2014. This gene is used to diagnose tuberculosis in humans and animals. Adenosine deaminase (ADA) is also a useful biomarker for the diagnosis of tuberculous pleuritis (TBP).
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID).People with SCID lack nearly all immune protection against bacteria, viruses, and fungi.
Methods: During a research in 2020; Patients with DADA2 who presented with pure red blood cell aplasia or bone marrow failure had frequent infections, hepatosplenomegaly and gingivitis. Patients with DADA2 vasculitis, patients with pure red cell aplasia, and BMF are largely resistant to TNF inhibitors. Pure erythrocyte aplasia and BMF were associated with missense mutations with minimal residual enzyme activity, leading to complete loss of function.
During a 2022 study, pediatric pleural tuberculosis, a paucibacillary disease, was diagnosed by the ADA with relatively high sensitivity and low specificity.
Results: In recent years, it is said that these people suffer from frequent infections as well as stroke and sometimes anemia as well as tuberculosis (mycobacterium tuberculosis).
In general, the body of affected people is not able to preserve and maintain lymphocytes, especially lymphocytes (T group of white blood cells that play a very important role in fighting microbes) and the goal of gene therapy in adenosine deaminase deficiency, Empowering the body to produce. And the effective preservation of lymphocytes has entered the field of root treatment of this disease. During this method, by using gene therapy methods, defective ADA genes can be replaced with healthy genes.
Conclusion: During a 2022 study, pediatric pleural tuberculosis, a paucibacillary disease, was diagnosed by the ADA with relatively high sensitivity and low specificity.During a 2022 study, pediatric pleural tuberculosis, a paucibacillary disease, was diagnosed by the ADA with relatively high sensitivity and low specificity.