| 1 | Genetic susceptibility to Candida infection: a new look at an old entity显示文摘The identification of the first molecular defect leading to Mendelian Susceptibility to Mycobacterial Disease (MSMD),1 a rare syndrome conferring predisposition to disease caused by weakly virulent mycobacteria (such as Mycobacterium bovis,Bacille Calmette Guérin vaccines and environmental mycobacteria),has led to a paradigm shift in the field of primary immunodeficiencies in the last two decades.The 'classic' patient with multiple immunologic abnormalities,conferring a broad susceptibility to multiple and recurrent infectious diseases caused by both weakly pathogenic and more virulent microorganisms,was the main Primary Immunodeficiency (PID) phenotype identified.Since 1996,mutations causing MSMD have been found in at least 6 genes related to interferon (IFN)-γ-mediated immunity.2 Intriguingly,this has opened the door to the identification of a molecular pathogenesis in patients affected by a narrow to extremely narrow susceptibility to bacterial,viral and fungal infections.3-7 These patients,more common than originally thought,are often otherwise healthy and are not prone to other unusually severe infections. | Davide Firinu Maria Pisanu Bruno Piras Raffaella Meleddu Maria Maddalena Lorrai Paolo Emilio Manconi Stefano R. Del Giacco | 2013 | Chinese Medical Journal2013，，2： | 1 |
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