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Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settings

23 Jul 2025

Abstract excerpt

Background: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare inborn error of immunity caused by defects in IL-12 or IFN-γ signaling pathways, essential for intracellular pathogen control. While classically linked to nontuberculous mycobacteria, MSMD also predisposes to bacterial, fungal, and viral infections. Objective: We sought to provide a practical framework for diagnosing and managing MSMD...

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PMID: 41048447
DOI: 10.1016/j.jacig.2025.100540

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