Akademik Veri Yönetim Sistemi
TURKISH JOURNAL OF IMMUNOLOGY, sa.1, ss.1-4, 2013 (ESCI)
Objectives: This study aims to investigate the role of IL-12R beta 1 lexpression analysis using flow cytometry for screening patients with mendelian susceptibility to mycobacterial disease (MSMD) land identification of the obligate carriers. Patients and methods: Six pediatric patients (2 girls 4 males; mean age 5 years; range 2 to 10 years) who were admitted to Hacettepe University, Department of Pediatric Immunology, Ankara with clinical signs of MSMD and with proven IL-12R beta 1 deficiency using mutation analysis and 12 parents (obligate carriers) were included in this study. A total of 58 family member and 20 healthy controls were also included. The subjects were screened for IL-12R beta 1 expression analysis using flow cytometry after in vitro stimulation with phytohemagglutinin (PHA) on the surface of peripheral blood lymphocytes. Results: The IL-12R beta 1 expression was less than 1% in six patients with clinical signs of MSMD and proven IL-12R beta 1 gene mutation. The mean percentages of lymphocytes expressing IL-12R beta 1 were found to be 85% (71%-98%) and 47% (18%9-75%) for the controls and obligate carriers, respectively. The ROC (receiver operating characteristics curve) analysis revealed the percentage of IL-12R beta 1 expressing cells 1%, <70%, and >76% could be regarded as homozygous IL-12R beta 1 deficient, IL-12R beta 1 carrier and healthy indiyiduals, respectively. Conclusion: Our study resultssuggestthat IL-12R beta 1 expression analysis with flow cytometry is an effective method for the screening of the patients with IL-12R beta 1 deficiency, the most common defect of MSMD.