Analysis of IFN-γR1 (CD119) and IL-12Rβ1 (CD212) Deficiency by Flow Cytometry

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare primary immune deficiency (PID). IL-12R beta 1 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-gamma R1 and IL-12R beta 1 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-gamma R1 and IL-12R beta 1 expression levels were analyzed in 32 volunteers including six patients, six relatives, and 20 healthy individuals. The normal range of IFN-gamma R1 and IL-12R beta 1 levels among healthy individuals were determined. IL-12R beta 1 expression level in lympho- cytes was found to be low in one patient's relative, and less than 1% in three patients and in one pa- tient's relative. It was observed that the IL-12R beta 1 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-gamma R1 and IL-12R beta 1 in one patient, but IFN-gamma R1 expression was decreased in one patient compared to healthy individuals. Our results show that the determination of IL-12R beta 1 and IFN-gamma R1 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-12R beta 1 and IFN-gamma R1 range data obtained from healthy individuals will be considered as a reference source in routine and research studies to be conducted with MSMD.

Automated summary

This study aimed to determine the expression of IFN-gamma R1 and IL-12R beta 1 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. The results showed that the determination of IL-12R beta 1 and IFN-gamma R1 deficiencies by flow cytometry can be used as a rapid and reliable method for the diagnosis of MSMD.