Vnitr Lek 2024, 70(8):533-538 | DOI: 10.36290/vnl.2024.101

New trends in the field of inborn errors of immunity

Zita Chovancová

Ústav klinické imunologie a alergologie LF MU a FN u sv. Anny v Brně

Congenital disorders of the immune system PIDs/IEIs) represent a dynamically developing group of diseases characterized not only by an increased susceptibility to infections but also by the occurrence of autoimmune, autoinflammatory, allergic, and malignant complications. Around 500 of these diseases have been described to date, and their number continues to grow. The result of dynamic progress in the diagnosis and therapy of these diseases is the progress of genetic diagnostics, the introduction of screening for PID/IEIs in newborns, as well as the use of new therapeutic approaches including gene therapy. Since the beginning of 2024, nationwide screening for severe combined immunodeficiency (SCID) has been introduced in the Czech Republic. Advances in genetic diagnostic technologies have allowed for more precise diagnostics and the acquisition of new data regarding the pathogenesis of PIDs/IEIs, which can be used to develop targeted therapies. Symptomatic treatment for patients with PIDs/IEIs, in addition to antimicrobial prophylaxis and immunoglobulin replacement therapy, has been enhanced with small molecules and biological therapy using monoclonal antibodies targeted against cytokines, cells, or their products. In the causal treatment of patients with PIDs/IEIs, there have been improvements in the procedures for hematopoietic stem cell transplantation (HSCT) and advances in the field of gene therapies. Future developments in the field of PID/IEIs will focus on more precise diagnostics, targeted therapies, and a personalized approach to treatment.

Keywords: inborn errors of immunity, primary immunodeficiencies, SCID screening, gene therapy, monoclonal antibodies, small molecules.

Accepted: November 27, 2024; Published: December 18, 2024  Show citation