FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3097543669> ?p ?o ?g. }

• W3097543669 abstract "The immune system is a complex integrated network of chemical and cellular mediators that developed during evolution to defend the body from any form of chemical, traumatic or infective insult to their integrity.A proper immune response relies on the innate immunity, that is responsible for a first line of defense against aggression and the aspecific recognition of a limited repertoire of antigens, and,later, on the adaptative immunity which includes chemical and cellular mediators responsible for a more powerful and specific defensive response from any form of antigen. Alterations of any part ofthe immune response results in failure of host defense and, in particular, of immunodeficiency,autoimmunity and cancer predisposition.Recent evidence highlights that the skin participates in a host defenses either acting as a primary boundary for germs, as the principal site of environment–host interactions, or directly in the developmental process of the immune system. As a matter of fact, skin and skin annexaabnormalities, such as skin dryness, brittleness of hair, nail abnormalities and abnormal dentition,can be not infrequently associated with distinct forms of immunodeficiency and may be a warningsign of immunodeficiency, since both epidermal and thymic epithelium have ectodermal origin.Severe combined immunodeficiency diseases (SCIDs) represent a heterogeneous group ofrare genetic syndromes responsible for severe dysfunctions of the immune system, which share similar clinical manifestations. SCID is the most severe form of inherited primaryimmunodeficiency (PID) and its prevalence is approximately 1:100,000 live births, with a higherprevalence in males (1). SCIDs are difficult to recognize clinically because so many different infectious scenarios can occur. Without a functional cellular and humoral immune system SCID patients are susceptible to recurrent infections such as severe bacterial, viral, or fungal infections early in life and often present with interstitial lung disease, chronic diarrhea, and failure to thrive. In5addition, some patients develop skin rashes, usually caused by maternal T cells transplacental engraftment during fetal life or by a wide autoreaction due to the activation of autologous T cellsagainst skin components (2, 3).Patients affected with particular forms of PID show an increased susceptibility to cancer. Inparticular, a high cancer susceptibility has been reported for a rare form of PID called Ataxia Telangiectasia (A-T) whose clinical hallmark is represented by the cerebellar neurodegenerationwith the loss of Purkinje cells. Recently, in a few clinical trial sit has been documented that a shortterm treatment with glucocorticoids (GCs) is able to partially rescue either the A-T neurological phenotype and lymphocytes proliferation, even though the mechanism of action has not yet beendefined (4-7).Conventionally, SCIDs have been so far classified, on the basis of the involvement ofdifferent cell lines in the pathogenesis of the disease and of the subsequent different clinical immunological phenotypes related to a specific genetic defect. T cell–deficient but normal B cell (T−B+) SCID and both T cell– and B cell–deficient (T−B−) SCID, in the presence or absence ofNK cells (8). This classification helps in directing molecular studies toward a certain genetic alteration, since it is representative of the stage where the blockage occurs during the differentiationprocess.More recently, advances in next generation DNA sequencing allowed new gene identification through whole exome or whole genome sequencing (WES, WGS) of several forms ofPIDs of unknown causes making the genetic identification of immunodeficiency syndromes moreefficient (9). Only in the last two years, using this technology 34 new gene defects have beenidentified. Most of these immunodeficiencies are rare, even though some of them occur more frequently than what previously reported, as documented by several groups (10). Based on the principle of massively parallel sequencing, NGS technology provides an advanced tool to6dramatically increase the speed at which DNA can be sequenced at a lower cost as compared to the traditional Sanger sequencing approach.In this context my PhD program has been focused on the study of some immunological disorders, in order to identify new scenarios in pathogenesis, diagnosis and therapeutic approaches.This thesis reports the results obtained during my PhD course in “Clinical and Experimental Medicine” (XXXI Cycle, years 2015-2018). During these years my research has been focused onthe study of the following lines of research:• positive effect of oral betamethasone administration on the in vitro lymphocytes functionality in patients affected with Ataxia-Telangiectasia, and the identification of the molecular checkpoint responsible for the partial functional rescue in lymphocytes of the patients affected with this disease.• characterization of a novel immunodeficiency whose hallmarks are represented byhigh IgM levels, impaired B-cell homeostasis and cancer susceptibility,• autoimmune manifestations and the pathogenetic mechanism underlying autoimmunity in a specific PID." @default.
• W3097543669 created "2020-11-09" @default.
• W3097543669 creator A5024553590 @default.
• W3097543669 date "2018-01-01" @default.
• W3097543669 modified "2023-09-27" @default.
• W3097543669 title "Novel insights in the pathogenesis of congenital immunodeficiencies" @default.
• W3097543669 hasPublicationYear "2018" @default.
• W3097543669 type Work @default.
• W3097543669 sameAs 3097543669 @default.
• W3097543669 citedByCount "0" @default.
• W3097543669 crossrefType "journal-article" @default.
• W3097543669 hasAuthorship W3097543669A5024553590 @default.
• W3097543669 hasConcept C104317684 @default.
• W3097543669 hasConcept C136449434 @default.
• W3097543669 hasConcept C203014093 @default.
• W3097543669 hasConcept C2777607303 @default.
• W3097543669 hasConcept C2779019163 @default.
• W3097543669 hasConcept C2779341262 @default.
• W3097543669 hasConcept C2779468541 @default.
• W3097543669 hasConcept C54355233 @default.
• W3097543669 hasConcept C86803240 @default.
• W3097543669 hasConcept C8891405 @default.
• W3097543669 hasConceptScore W3097543669C104317684 @default.
• W3097543669 hasConceptScore W3097543669C136449434 @default.
• W3097543669 hasConceptScore W3097543669C203014093 @default.
• W3097543669 hasConceptScore W3097543669C2777607303 @default.
• W3097543669 hasConceptScore W3097543669C2779019163 @default.
• W3097543669 hasConceptScore W3097543669C2779341262 @default.
• W3097543669 hasConceptScore W3097543669C2779468541 @default.
• W3097543669 hasConceptScore W3097543669C54355233 @default.
• W3097543669 hasConceptScore W3097543669C86803240 @default.
• W3097543669 hasConceptScore W3097543669C8891405 @default.
• W3097543669 hasLocation W30975436691 @default.
• W3097543669 hasOpenAccess W3097543669 @default.
• W3097543669 hasPrimaryLocation W30975436691 @default.
• W3097543669 hasRelatedWork W1271385338 @default.
• W3097543669 hasRelatedWork W1580079915 @default.
• W3097543669 hasRelatedWork W2007140681 @default.
• W3097543669 hasRelatedWork W2022337140 @default.
• W3097543669 hasRelatedWork W2060734371 @default.
• W3097543669 hasRelatedWork W2062415238 @default.
• W3097543669 hasRelatedWork W2071772680 @default.
• W3097543669 hasRelatedWork W2099824170 @default.
• W3097543669 hasRelatedWork W2102809271 @default.
• W3097543669 hasRelatedWork W2318076276 @default.
• W3097543669 hasRelatedWork W2414676106 @default.
• W3097543669 hasRelatedWork W2559874843 @default.
• W3097543669 hasRelatedWork W2795277207 @default.
• W3097543669 hasRelatedWork W2808888831 @default.
• W3097543669 hasRelatedWork W2915680266 @default.
• W3097543669 hasRelatedWork W2980889546 @default.
• W3097543669 hasRelatedWork W3112835898 @default.
• W3097543669 hasRelatedWork W321243036 @default.
• W3097543669 hasRelatedWork W583323067 @default.
• W3097543669 hasRelatedWork W85972651 @default.
• W3097543669 isParatext "false" @default.
• W3097543669 isRetracted "false" @default.
• W3097543669 magId "3097543669" @default.
• W3097543669 workType "article" @default.