03501nam a22005655i 4500 978-3-031-78864-2 DE-He213 20251030114632.0 cr nn 008mamaa 241221s2024 sz | s |||| 0|eng d 9783031788642 978-3-031-78864-2 10.1007/978-3-031-78864-2 doi RC1-1245 MJ bicssc MED045000 bisacsh MJ thema Severe Combined Immunodeficiency [electronic resource] / edited by Mario Milco D'Elios. 1st ed. 2024. Cham : Springer Nature Switzerland : Imprint: Springer, 2024. IX, 121 p. 12 illus. in color. online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier text file PDF rda Rare Diseases of the Immune System, 2283-6403 Preface -- 1. Mucosal Immunity in Primary Immunodeficiencies -- 2. Genetic defects associated with SCID and their impact on lymphocyte development -- 3. Bioinformatics in primary immunodeficiencies: Towards a "computational immunology" era -- 4. Clinical management of severe combined immunodeficiencies -- 5. Hot topics in SCID -- 6. Late-onset and hypomorphic presentation of severe combined immune deficiency -- 7. Gut involvement in Cellular Immunodeficiencies -- Subject index. This handy volume, that can also serve as an integration to the preceding work Cellular Primary Immunodeficiencies by the same editor, presents detailed state of the art knowledge on Severe Combined Immunodeficiency (SCID) with extensive coverage of both basic science discoveries and the latest clinical advances in the field. The book is structured according to the most recent classifications including update on the immunological synapse, as well as on bioinformatics in primary immunodeficiencies leading the reader towards the computational immunology era. Readers will also find in-depth descriptions of SCID genes and related clinical application, and aspects such as differential diagnosis, clinical management, and the role of vaccines are also addressed. The authors are recognized experts world-wide and have crafted their chapters to turn Severe Combined Immunodeficiency in a valued, compact update for immunologists, paediatricians, internists, rheumatologists, and infectious diseases specialists, that MDs and PhD students will find informative as well. Internal medicine. Immunology. 69214 Medical genetics. 64976 Rheumatology. 72809 Internal Medicine. Immunology. 69214 Medical Genetics. 64976 Rheumatology. 72809 D'Elios, Mario Milco. editor. edt http://id.loc.gov/vocabulary/relators/edt 89344 SpringerLink (Online service) Springer Nature eBook Printed edition: 9783031788635 Printed edition: 9783031788659 Printed edition: 9783031788666 Rare Diseases of the Immune System, 2283-6403 84384 https://doi.org/10.1007/978-3-031-78864-2 ZDB-2-SME ZDB-2-SXM 65930 65930