Here we describe a 10-year-old girl with combined immunodeficiency presenting as recurring chest infections, lung disease and herpetic skin infections. The patient experienced two hematopoietic stem ...cell transplantations and despite full chimerism, she developed bone marrow aplasia due to adenovirus infection and died at post-transplant day 86. Immunologic investigation revealed low numbers of TRECs/KRECs, a severe reduction of memory B cells, absence of isohemagglutinins, and low IgG levels. Whole exome sequencing (WES) identified a novel heterozygous mutation in RAC2(c.275A > C, p.N92 T). Flow cytometric investigation of neutrophil migration demonstrated an absence of chemotaxis to fMLP. Cell lines transfected with RAC2 N92 T displayed characteristics of active GTP-bound RAC2 including enhanced NADPH oxidase-derived superoxide production both at rest and in response to PMA.
Our findings broaden the clinical picture of RAC2 dysfunction, showing that some individuals can present with a combined immunodeficiency later in childhood rather than a congenital neutrophil disease.
•We report a new case of heterozygous RAC2 deficiency, with the clinical presentation of recurrent respiratory infections, lung disease and susceptibility to varicella and herpetic infections.•Our report expands the phenotypic spectrum of RAC2 deficiency•Dominant activating mutations in RAC2 gene can lead to presentations of combined immunodeficiency where both myeloid and lymphoid lineages are affected
The article presents the results of treatment of 157 patients with generalized periodontitis depending on blood type using polypeptide drugs. The concentration of total protein, C – reactive protein, ...IgG, TRACP, BSALP, albumin, amylase, lipase, Ca, Fe was determined in the oral fluid. The treatment allowed to reduce the content of total protein, C – reactive protein, TRACP in the oral fluid with increasing levels of calcium, Fe, BSALP, in relation to the relevant data before treatment. And also, polypeptide drugs helped to increase the level of albumin in representatives of 0 (I) and A (II) blood type in the oral fluid; contributed to a decrease: glucose, IgG with increasing activity, amylase and lipase in carriers of B (III) and AB (IV) blood type in the oral fluid, in relation to the values before treatment. The dynamics of indicators of oral fluid metabolism with the help of polypeptide drugs, convincingly proves the effectiveness of their use in the treatment of generalized periodontitis in patients with different blood type.
this article contains a comparative analysis of the main directions of the information policy of different states in three areas: information rights and freedoms, e-government and information ...security. Such a comparison is an actual character because the problems of information law are often global, and the legal regulation of information relations has an international component. Based on the results of the comparison of national legislations of different countries conducted in the article on certain issues of the information law, the following conclusions are made. Realization of the basic rights and freedoms of citizens in the information sphere occupies a special place among the national interests of most countries, but the rights of the individual can be limited. Legal restrictions in the information field are considered on the example of comparison of methods of content management of the global network, which are characterized by the state's definition of the level of interference in the network life of citizens and methods of ensuring intervention. Electronic governance in various states is characterized by a transition from the concept of "e-government" to the "digital government" model associated with the transformation of the entire structure of public administration. In this field, the UK experience is valuable, where the "Government as a platform" project is being implemented, and Germany, where the construction of "e-government" basically began with the enhancement of the information culture of citizens and civil servants. Information security today come out on top in the majority of countries and international organizations. In general, information security trends in all countries are similar, which is reflected in the Russian strategic documents.
this article contains a comparative analysis of the main directions of the information policy of different states in three areas: information rights and freedoms, e-government and information ...security. Such a comparison is an actual character because the problems of information law are often global, and the legal regulation of information relations has an international component. Based on the results of the comparison of national legislations of different countries conducted in the article on certain issues of the information law, the following conclusions are made. Realization of the basic rights and freedoms of citizens in the information sphere occupies a special place among the national interests of most countries, but the rights of the individual can be limited. Legal restrictions in the information field are considered on the example of comparison of methods of content management of the global network, which are characterized by the state's definition of the level of interference in the network life of citizens and methods of ensuring intervention. Electronic governance in various states is characterized by a transition from the concept of "e-government" to the "digital government" model associated with the transformation of the entire structure of public administration. In this field, the UK experience is valuable, where the "Government as a platform" project is being implemented, and Germany, where the construction of "e-government" basically began with the enhancement of the information culture of citizens and civil servants. Information security today come out on top in the majority of countries and international organizations. In general, information security trends in all countries are similar, which is reflected in the Russian strategic documents.
The article contains a comparative analysis of the main directions of the information policy of different states in three areas: information rights and freedoms, e-government and information ...security. Such a comparison is an actual character because the problems of information law are often global, and the legal regulation of information relations has an international component. Based on the results of the comparison of national legislations of different countries conducted in the article on certain issues of the information law, the following conclusions are made. Realization of the basic rights and freedoms of citizens in the information sphere occupies a special place among the national interests of most countries, but the rights of the individual can be limited. Legal restrictions in the information fi eld are considered on the example of comparison of methods of content management of the global network, which are characterized by the state's defi nition of the level of interference in the network life of citizens and methodsof ensuring intervention. Electronic governance in various states is characterized by a transition from the concept of «e-government» to the «digital government» model associated with the transformation of the entire structure of public administration. In this fi eld, the UK experience is valuable, where the “Government as a platform” project is being implemented, and Germany, where the construction of «e-government» basically began with the enhancement of the information culture of citizens and civil servants. Information security today comes out on top in the majority of countries and international organizations. In general, information security trends in all countries are similar, which is refl ected in the Russian strategic documents.
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