Research involving human participants. Informed consent for participation in this study was obtained in accordance with local regulations, with approval from the IRB.Informed consent. Written informed consent was obtained from the guardians of the patient.
Background: Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection in children following BCG vaccination performed at their birth time. In the infected children with MSMD, there is a susceptibility to systemic infection with mycobacterium tuberculosis and nontuberculous including Bacillus Calmette-Guerin (BCG) vaccine Aime:We aimed to diagnosis MSMD patients over a period of 2 years at the main referral center for immunological disorders in Iran.Methods & Materials: In this study, suspected patients with MSMD referred to "Immunology, Asthma and Allergy Research Institute" are studied genetically. The patients were affected with localized disseminated and recurrent lymphadenopthy after BCG vaccination at the birth time, and have normal immune system result testsTheir LTT function is normal in the exposure with PHA, is defective in the exposure to BCG In this study, we measured Il12, IFN gama levels to help identify patie Results: In this study, we have 4 controls and 8 patients that had impaired response to IL-12. Although there was no significant relationship between LTT with PHA .it becomes signification when we added BCG aliveIn addition the arrays of IL l12(0.003), IFN gama(0.015) between controls and patient groups was signification Conclusion: Evaluating IFN-g and IL-12 assay can help for quick and short time diagnosis of MSMD disease (defect in IL12r1, recep-tor1, and defect in IL12 and IFN-g receptor). However genetic investigation in this disease is more complete and definitive for the diagnosis in these patients.
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