Primary Immune Regulatory Disorders and Targeted Therapies

• Published in: Turkish journal of haematology Vol. 38; no. 1; pp. 1 - 14
• Main Authors: Kolukısa, Burcu, Barış, Safa
• Format: Journal Article
• Language: English
• Published: Turkey Türk Hematoloji Derneği 25-02-2021; Galenos Publishing House; Galenos Publishing
• Subjects: autoimmunity; Disease control; Genes; Hematology; immune dysregulation; Immune system; Immunology; Immunosuppressive agents; Infections; Lung diseases; lymphoproliferation; Medical diagnosis; Medicine; Multidisciplinary teams; Mutation; Pediatrics; precision medicine; primary immune deficiencies; Proteins; Review; Signal transduction; targeted therapy; Tıp; University faculty; İstanbul; Türkiye; Autoimmunity; Primary immune deficiencies; Immune dysregulation; Precision medicine; Targeted therapy; Lymphoproliferation; Primer immün yetmezlikler; Lenfoproliferasyon; Targeted therapy Primer; Otoimmünite; İmmün disregülasyon; Hedeflenmiş tedavi; Hassas tıp
• ISSN: 1300-7777; 1308-5263
• DOI: 10.4274/tjh.galenos.2021.2020.0724

Primary immune regulatory disorders (PIRDs) are a group of diseases belonging to inborn errors of immunity. They usually exhibit lymphoproliferation, autoimmunities, and malignancies, with less susceptibility to recurrent infections. Unlike classical primary immune deficiencies, in autoimmune manifestations, such as cytopenias, enteropathy can be the first symptom of diseases, and they are typically resistant to treatment. Increasing awareness of PIRDs among specialists and a multidisciplinary team approach would provide early diagnosis and treatment that could prevent end-organ damage related to the diseases. In recent years, many PIRDs have been described, and understanding the immunological pathways linked to these disorders provides us an opportunity to use directed therapies for specific molecules, which usually offer better disease control than known classical immunosuppressants. In this review, in light of the most recent literature, we will discuss the common PIRDs and explain their clinical symptoms and recent treatment modalities.