نتایج جستجو برای: mendelian susceptibility to mycobacterial disease
تعداد نتایج: 11055952 فیلتر نتایج به سال:
Unlike Mendelian epilepsies, complex epilepsies may be due to the effect of several or multiple susceptibility genes. Association studies have been used in the past decade to help identify common genetic variants underpinning complex epilepsies. However, as the data in the Epilepsy Genetic Association Database (epiGAD) show, many of these studies have been negative, or have shown confl icting r...
Most Mendelian diseases studied to date arise from mutations that lead to a single amino acid change in an encoded protein. An increasing number of complex diseases have also been associated with amino acid-changing single-nucleotide polymorphisms (coding SNPs, cSNPs), suggesting potential similarities between Mendelian and complex diseases at the molecular level. Here, we use two different evo...
Mycobacterium tuberculosis (MTB), one of the major bacterial pathogens for lethal infectious diseases, is capable of surviving within the phagosomes of host alveolar macrophages; therefore, host genetic variations may alter the susceptibility to MTB. In this study, to identify host genes exploited by MTB during infection, genes were non-selectively inactivated using lentivirus-based antisense R...
Introduction: Extrapulmonary mycobacterial infection can lead to vertebral spondylitis and osteomyelitis (Pott’s disease). Retropharyngeal abscess with concurrent spinal is a rare presentation of tuberculosis in the US. Chart review on patient was completed, relevant published literature reviewed. Case Presentation: A previously healthy 34-year-old male originally from Sudan presented an outsid...
larsen syndrome is a skeletal dysplasia (osteochondro-dysplasia) in which multiple dislocations of the large joints are the major feature . nosology in this group of disease, which constitutes 8% of mendelian disorders in man, is primarily based on clinical and radiological features. the underlying genetic defect is 3p21.1-p14.1 in the dominant type
Mutations in IFNGR1, IFNGR2, IL12RB1, IL12B, STAT1 and NEMO result in a common clinical phenotype known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency is the most common genetic etiology for MSMD. Known mutations affecting IL12RB1 are recessively inherited and are associated with null response to both IL-12 and IL-23. Mutatio...
Germline mutations in five autosomal genes involved in interleukin (IL)-12-dependent, interferon (IFN)-gamma-mediated immunity cause Mendelian susceptibility to mycobacterial diseases (MSMD). The molecular basis of X-linked recessive (XR)-MSMD remains unknown. We report here mutations in the leucine zipper (LZ) domain of the NF-kappaB essential modulator (NEMO) gene in three unrelated kindreds ...
Chronic Mucocutaneous Candidiasis (CMC) is the chronic, recurrent, noninvasive Candida infections of the skin, mucous membranes, and nails. A 26-month-old girl was admitted with the complaints of recurrent oral Candidiasis, diarrhea, and respiratory infections. Candida albicans grew in oral mucosa swab. CMV and EBV DNA titers were elevated. She had hypergammaglobulinemia; IgE level, percentages...
The advantages of inbred or founder populations for genetic studies were first noted over 30 years ago [1–3], but interest in these populations was renewed as a result of the explosion of molecular biological techniques and the initiation of the Human Genome Project [4,5]. The relatively small number of founders and recent ancestries that are characteristic of these populations facilitate the s...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید