نتایج جستجو برای: mendelian susceptibility to mycobacterial disease
تعداد نتایج: 11055952 فیلتر نتایج به سال:
During the past two decade, linkage analysis has been phenomenally successful in localizing Mendelian disease genes. Now, human genetics moves toward identification of genes contributing to the susceptibility to common and non-Mendelian diseases, such as hypertension, diabetes, heat disease, familial cancer, and so on. In parametric linkage analysis, mode of inheritance of the disease susceptib...
Complete interferon-gamma receptor 1 (IFNgammaR1) deficiency is a primary immunodeficiency disease characterized by high susceptibility to recurrent, severe mycobacterial and other intracellular infections. We here report the first successful treatment of the disorder by bone marrow transplantation (BMT). The 8-year-old girl had suffered from recurrent mycobacterial infections in the past and h...
Mendelian susceptibility to mycobacterial disease (MSMD) is caused by inborn errors of interferon gamma (IFNγ) immunity and is characterized by severe infections by weakly virulent mycobacteria. Although IFNγ is the macrophage-activating factor, macrophages from these patients have never been studied. We demonstrate the generation of heterozygous and compound heterozygous (iMSMD-cohet) induced ...
Group 2 innate lymphoid cells (ILC2) include IL-5- and IL-13-producing CRTh2(+)CD127(+)cells that are implicated in early protective immunity at mucosal surfaces. Whereas functional plasticity has been demonstrated for both human and mouse ILC3 subsets that can reversibly give rise to IFN-γ-producing ILC1, plasticity of human or mouse ILC2 has not been shown. Here, we analyze the phenotypic and...
Tuberculosis affects human life globally for long time. About one third of the world’s population is infected with the causal pathogen Mycobacterium tuberculosis but without presenting any clinical symptoms. The difference in clinical outcome of infection suggests that host genetic makeup is responsible for such variability. Attempts have been made to identify the underlying genes. In case of M...
Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and ...
Infections due to non-tuberculous mycobacteria species are problematic for immunodeficient individuals. Mendelian susceptibility to mycobacterial diseases (MSMD) defines a group of genetic defects affecting cellular interactions and the interferon (IFN)-γ pathway. Patients with MSMD may present with a disseminated infection resulting from the Bacillus Calmette-Guerin vaccine, Mycobacterium tube...
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