| Autor: |
Gelmez MY; İstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Immunology, İstanbul, Türkiye., Köksalan K; İstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Immunology, İstanbul, Türkiye., Çınar S; İstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Immunology, İstanbul, Türkiye., Hatipoğlu N; University of Health Sciences, Dr. Sadi Konuk Research and Training Hospital, Department of Pediatrics, İstanbul, Türkiye., Coşkuner T; University of Health Sciences, Dr. Sadi Konuk Research and Training Hospital, Department of Pediatrics, İstanbul, Türkiye., Topkarcı Z; University of Health Sciences, Dr. Sadi Konuk Research and Training Hospital, Department of Dermatology, İstanbul, Türkiye., Hançerli Törün S; İstanbul University Faculty of Medicine, Department of Pediatrics, İstanbul, Türkiye., Demirbuğa A; İstanbul University Faculty of Medicine, Department of Pediatrics, İstanbul, Türkiye., Yücel E; İstanbul University Faculty of Medicine, Department of Pediatrics, İstanbul, Türkiye., Kıykım A; İstanbul University-Cerrahpaşa Faculty of Medicine, Department of Pediatrics, İstanbul, Türkiye., Çokuğraş HC; İstanbul University-Cerrahpaşa Faculty of Medicine, Department of Pediatrics, İstanbul, Türkiye., Gemici-Karaaslan HB; İstanbul University-Cerrahpaşa Faculty of Medicine, Department of Pediatrics, İstanbul, Türkiye., Kendir-Demirkol Y; University of Health Sciences, Ümraniye Training and Research Hospital, Department of Pediatric Genetics, İstanbul, Türkiye., Deniz G; İstanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Immunology, İstanbul, Türkiye. |
| Abstrakt: |
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare primary immune deficiency (PID). IL-12Rβ1 deficiency is the most frequently observed of more than 16 genetic defects that have been identified for MSMD. Genetic and immunological tests are remarkable in the diagnosis of PID. In this study, it was aimed to determine the expression of IFN-γR1 and IL-12Rβ1 in patients with MSMD, their relatives, and healthy individuals and to evaluate the importance of flow cytometry as a fast and reliable method in the diagnosis of MSMD. IFN-γR1 and IL-12Rβ1 expression levels were analyzed in 32 volunteers including six patients, six relatives, and 20 healthy individuals. The normal range of IFN-γR1 and IL-12Rβ1 levels among healthy individuals were determined. IL-12Rβ1 expression level in lymphocytes was found to be low in one patient's relative, and less than 1% in three patients and in one patient's relative. It was observed that the IL-12Rβ1 expression levels of the patient with STAT1 deficiency were increased compared to the healthy individuals. No difference was found in the expression levels of IFN-γR1 and IL-12Rβ1 in one patient, but IFN-γR1 expression was decreased in one patient compared to healthy individuals. Our results show that the determination of IL-12Rβ1 and IFN-γR1 deficiencies by flow cytometry can be used as a rapid and reliable method for the diagnosis of MSMD. The use of this method as a screening test will enable early diagnosis especially in patients whose genetic diagnosis has not been confirmed and clinically compatible with MSMD. In addition, it is thought that IL-12Rβ1 and IFN-γR1 range data obtained from healthy individuals will be considered as a reference source in routine and research studies to be conducted with MSMD. |
