Immune deficiency in congenital defect in the glucose-6-phosphate-dehydrogenase gene

Bulgarian Medical Journal, 2024, 18(1), 7-12.

M. Baleva

Department of Obstetric Care, Medical University – Plovidv, USHATOG Selena – Plovdiv

Abstract. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by a defect in a gene located on the X chromosome. G6PD stimulates the conversion of NADP into NADPH (substrate of NADPH oxidase), responsible for the formation of the antioxidant glutathione. The last protects cells against oxidative stress. G6PD deficiency leads to the loss of cell integrity after eating fava bean, use of some drugs (antimalarial drugs, antibiotics, etc.) and in the course of some infections, incl. SARS-CoV-2. Most often, erythrocytes are destroyed with the subsequent manifestation of hemolytic anemia of varying severity. G6PD deficiency in the cells of the monocyte-macrophage system leads to reduced production of NO, H O , O-, which are important components for their microbicidal activity. As a result, severe infections are observed, often with a fatal outcome. Immune deficiency associated with a hereditary defect in the G6PD gene is included in the classification of primary immunodeficiency diseases (PID). The examination of the G6PD concentration as well as the demonstration of the genetic defect with molecular genetic methods, significantly improve the possibilities of prevention and treatment.

Key words: G6PD deficiency, primary immunodeficiency diseases

Address for correspondence: Prof. Marta Baleva, e-mail: marta.baleva@gmail.com