Mendelian susceptibility to mycobacterial infections
نویسندگان
چکیده
منابع مشابه
Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.
Heterozygosity for dominant-negative STAT1 mutations underlies autosomal dominant Mendelian susceptibility to mycobacterial diseases. Mutations conferring Mendelian susceptibility to mycobacterial diseases have been identified in the regions of the STAT1 gene encoding the tail segment, DNA-binding domain and SH2 domain. We describe here a new heterozygous mutation, Y701C, in a Japanese two-gene...
متن کاملEvaluation of IL-12/23-IFN-g axis in Brazilian adult patients with recurrent mycobacteriosis
Background The Mendelian Susceptibility to Mycobacterial Diseases (MSMD) is a rare congenital syndrome that confers a predisposition to recurrent infections by mycobacteria. All genetic defects that lead to MSMD produce changes at IL-12/23-IFN-g axis. We aimed to evaluate the IL-12/ 23-IFN-g axis in adult patients with recurrent mycobacterial infections in order to identify possible MSMD patients.
متن کاملImpaired in-vitro responses to IL-12 and IFN-γ in Iranian patients with Mendelian susceptibility to mycobacterial disease.
INTRODUCTION Diagnosis of specific molecular defects of Mendelian susceptibility to mycobacterial diseases (MSMD) patients is important with respect to their clinical outcomes and their response to therapy. The aim of this study was to perform functional tests on blood samples of a group of patients who were suspected of having MSMD. METHODS This study was performed on 11 cases who had mycoba...
متن کاملEnigmas of primary immunodeficiency and mycobacterial infection in our territory
Introduction Defects of the immune system in Primary immunodeficient diseases (PIDs) predispose individuals to recurrent infections. Complex genetic components for susceptibility to mycobacterial disease have been suggested. Natural human immunity to the mycobacteria group, including Mycobacterium tuberculosis(MTB), Bacille Calmette-Guérin (BCG) or nontuberculous mycobacteria (NTM) relies on th...
متن کاملMendelian Susceptibility to Mycobacterial Disease in Egyptian Children
BACKGROUND Tuberculosis remains a major health problem in developing countries especially with the emergence of multidrug resistant strains. Mendelian Susceptibility to Mycobacterial Disease (MSMD) is a rare disorder with impaired immunity against mycobacterial pathogens. Reported MSMD etiologies highlight the crucial role of the Interferon gamma /Interleukin 12 (IFN-γ/ IL-12) axis and the phag...
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تاریخ انتشار 2005