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- W64606811 abstract "Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a heterogenous syndrome. The clinical characteristics include repetitive local infection and in some cases dissemination. In this work we analyzed a 5 years old boy with an uncharacterized mycobacterial infection. His parents are first degree cousins. Blood samples were collected and cultured 48 hours with medium, BCG or BCG+IL-12. Supernatants were assayed for IFN-γ by ELISA. PBMC were cultured with PMA-Ionomicyn and IL12R was measured by flow cytometry. We found low production of IFN γ after stimulation with BCG+IL12 that seems to correlate with an IL-12R defect. Flow cytometry showed a decrease of IL-12RB1 expression. Sequencing revealed a point mutation (A182T), which generates E61G change in the extracellular domain. Furthermore, the uncommon clinical features in this case might suggest another primary immunodeficiency." @default.
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- W64606811 date "2011-04-01" @default.
- W64606811 modified "2023-09-27" @default.
- W64606811 title "Detection of a point mutation in IL12/23 receptor beta 1 chain in a Mexican patient with uncommon clinical feature. (58.5)" @default.
- W64606811 doi "https://doi.org/10.4049/jimmunol.186.supp.58.5" @default.
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