Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges
This Special issue focuses of the most relevant advances in the field of inborn errors of immunity. Indeed, as immunology is rapidly progressing, with the constant discovery of new disease entities and the better characterization of molecular mechanisms and targeted therapies, a continuous update is...
Sábháilte in:
| Formáid: | Online |
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| Teanga: | Béarla |
| Foilsithe / Cruthaithe: |
MDPI - Multidisciplinary Digital Publishing Institute
2023
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| Ábhair: | |
| Rochtain ar líne: | ONIX_20230808_9783036583082_34 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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| _version_ | 1869521630264295424 |
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| collection | Directory of Open Access Books |
| description | This Special issue focuses of the most relevant advances in the field of inborn errors of immunity. Indeed, as immunology is rapidly progressing, with the constant discovery of new disease entities and the better characterization of molecular mechanisms and targeted therapies, a continuous update is mandatory for clinician and researchers. In this Issue, the non-infectious manifestations of inborn errors of immunity (such as autoimmunity, atopy, and lymphoproliferation) are deeply discussed, as well as the impact of the novel genetic sequencing techniques in the diagnostic approach. Moreover, some well-known disorders, including common variable immunodeficiency, are extensively reviewed and revisited in a modern way. Also, diseases of recent description, including some disorders of immune dysregulation and inborn errors of immunity associated with syndromes, are described. Finally, some of the papers of this Special Issue focus in a detailed way the molecular mechanisms leading to immunodeficiency and immune dysregulation, also opening the way for further clinical and preclinical studies. As the expanding availability of immunological and genetic testing offers the opportunity to identify new disease entities and elucidate the function of new genes involved in the development and regulation of the immune response, we aim to present the most relevant innovations in this delicate field. |
| format | Online |
| id | doab-20.500.12854ir-112528 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-1125282024-04-11T15:11:12Z Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges Consolini, Rita Costagliola, Giorgio B cell maturation CD4+ cells T cell maturation primary immune deficiency autoimmunity connective tissue diseases atopic diseases atopy allergy selective IgA deficiency primary immunodeficiency autoimmune diseases Immunoglobulin E Immunoglobulin deficiency infections malignancy 22q11.2 deletion syndrome activated phosphoinositide 3-kinase d syndrome common variable immunodeficiency complement deficiency CTLA-4 Immune dysregulation LRBA severe combined immunodeficiency X-linked agammaglobulinemia anti-SARS-CoV-2 antibodies COVID-19 SARS-CoV-2 PIMS-TS Foxp3 IPEX CVID primary immunodeficiencies epigenetics DNA methylation inborn errors of immunity DiGeorge syndrome 22q11.2 deletion thymic output dendritic cells immunodeficiency copy number variations array-CGH IKZF1 IKAROS de novo mutation R162Q immune response heterologous vaccine humoral response T-cell response autoimmune lymphoproliferative syndrome lymphoproliferation gastrointestinal infections Giardia giardiasis refractory treatment immunology immunogenetic eosinophilic gastrointestinal disorders eosinophilic esophagitis unclassified primary antibody deficiency primary antibody deficiency transient hypogammaglobulinemia of infancy children TNFRSF13B mutations isolated IgM deficiency n/a thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TC Biochemical engineering::TCB Biotechnology This Special issue focuses of the most relevant advances in the field of inborn errors of immunity. Indeed, as immunology is rapidly progressing, with the constant discovery of new disease entities and the better characterization of molecular mechanisms and targeted therapies, a continuous update is mandatory for clinician and researchers. In this Issue, the non-infectious manifestations of inborn errors of immunity (such as autoimmunity, atopy, and lymphoproliferation) are deeply discussed, as well as the impact of the novel genetic sequencing techniques in the diagnostic approach. Moreover, some well-known disorders, including common variable immunodeficiency, are extensively reviewed and revisited in a modern way. Also, diseases of recent description, including some disorders of immune dysregulation and inborn errors of immunity associated with syndromes, are described. Finally, some of the papers of this Special Issue focus in a detailed way the molecular mechanisms leading to immunodeficiency and immune dysregulation, also opening the way for further clinical and preclinical studies. As the expanding availability of immunological and genetic testing offers the opportunity to identify new disease entities and elucidate the function of new genes involved in the development and regulation of the immune response, we aim to present the most relevant innovations in this delicate field. 2023-08-08T15:25:17Z 2023-08-08T15:25:17Z 2023 book ONIX_20230808_9783036583082_34 9783036583082 9783036583099 https://directory.doabooks.org/handle/20.500.12854/112528 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/7654 https://mdpi.com/books/pdfview/book/7654 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-8309-9 10.3390/books978-3-0365-8309-9 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036583082 9783036583099 228 Basel open access |
| spellingShingle | B cell maturation CD4+ cells T cell maturation primary immune deficiency autoimmunity connective tissue diseases atopic diseases atopy allergy selective IgA deficiency primary immunodeficiency autoimmune diseases Immunoglobulin E Immunoglobulin deficiency infections malignancy 22q11.2 deletion syndrome activated phosphoinositide 3-kinase d syndrome common variable immunodeficiency complement deficiency CTLA-4 Immune dysregulation LRBA severe combined immunodeficiency X-linked agammaglobulinemia anti-SARS-CoV-2 antibodies COVID-19 SARS-CoV-2 PIMS-TS Foxp3 IPEX CVID primary immunodeficiencies epigenetics DNA methylation inborn errors of immunity DiGeorge syndrome 22q11.2 deletion thymic output dendritic cells immunodeficiency copy number variations array-CGH IKZF1 IKAROS de novo mutation R162Q immune response heterologous vaccine humoral response T-cell response autoimmune lymphoproliferative syndrome lymphoproliferation gastrointestinal infections Giardia giardiasis refractory treatment immunology immunogenetic eosinophilic gastrointestinal disorders eosinophilic esophagitis unclassified primary antibody deficiency primary antibody deficiency transient hypogammaglobulinemia of infancy children TNFRSF13B mutations isolated IgM deficiency n/a thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TC Biochemical engineering::TCB Biotechnology Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges |
| title | Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges |
| title_full | Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges |
| title_fullStr | Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges |
| title_full_unstemmed | Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges |
| title_short | Primary Immunodeficiencies: Pathogenetic Advances, Diagnostic and Management Challenges |
| title_sort | primary immunodeficiencies pathogenetic advances diagnostic and management challenges |
| topic | B cell maturation CD4+ cells T cell maturation primary immune deficiency autoimmunity connective tissue diseases atopic diseases atopy allergy selective IgA deficiency primary immunodeficiency autoimmune diseases Immunoglobulin E Immunoglobulin deficiency infections malignancy 22q11.2 deletion syndrome activated phosphoinositide 3-kinase d syndrome common variable immunodeficiency complement deficiency CTLA-4 Immune dysregulation LRBA severe combined immunodeficiency X-linked agammaglobulinemia anti-SARS-CoV-2 antibodies COVID-19 SARS-CoV-2 PIMS-TS Foxp3 IPEX CVID primary immunodeficiencies epigenetics DNA methylation inborn errors of immunity DiGeorge syndrome 22q11.2 deletion thymic output dendritic cells immunodeficiency copy number variations array-CGH IKZF1 IKAROS de novo mutation R162Q immune response heterologous vaccine humoral response T-cell response autoimmune lymphoproliferative syndrome lymphoproliferation gastrointestinal infections Giardia giardiasis refractory treatment immunology immunogenetic eosinophilic gastrointestinal disorders eosinophilic esophagitis unclassified primary antibody deficiency primary antibody deficiency transient hypogammaglobulinemia of infancy children TNFRSF13B mutations isolated IgM deficiency n/a thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TC Biochemical engineering::TCB Biotechnology |
| topic_facet | B cell maturation CD4+ cells T cell maturation primary immune deficiency autoimmunity connective tissue diseases atopic diseases atopy allergy selective IgA deficiency primary immunodeficiency autoimmune diseases Immunoglobulin E Immunoglobulin deficiency infections malignancy 22q11.2 deletion syndrome activated phosphoinositide 3-kinase d syndrome common variable immunodeficiency complement deficiency CTLA-4 Immune dysregulation LRBA severe combined immunodeficiency X-linked agammaglobulinemia anti-SARS-CoV-2 antibodies COVID-19 SARS-CoV-2 PIMS-TS Foxp3 IPEX CVID primary immunodeficiencies epigenetics DNA methylation inborn errors of immunity DiGeorge syndrome 22q11.2 deletion thymic output dendritic cells immunodeficiency copy number variations array-CGH IKZF1 IKAROS de novo mutation R162Q immune response heterologous vaccine humoral response T-cell response autoimmune lymphoproliferative syndrome lymphoproliferation gastrointestinal infections Giardia giardiasis refractory treatment immunology immunogenetic eosinophilic gastrointestinal disorders eosinophilic esophagitis unclassified primary antibody deficiency primary antibody deficiency transient hypogammaglobulinemia of infancy children TNFRSF13B mutations isolated IgM deficiency n/a thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TC Biochemical engineering::TCB Biotechnology |
| url | ONIX_20230808_9783036583082_34 |