Identifying Novel Inborn Errors of the Immune System (Запис № 449320)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04198nam a22005775i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-3-658-16796-7 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20210118135512.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 170103s2017 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9783658167967 |
| -- | 978-3-658-16796-7 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-3-658-16796-7 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RJ1-570 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MJW |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED069000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MKD |
| Source | thema |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 618.92 |
| Edition number | 23 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Salzer, Elisabeth. |
| Relator term | author. |
| Relator code | aut |
| -- | http://id.loc.gov/vocabulary/relators/aut |
| 245 10 - TITLE STATEMENT | |
| Title | Identifying Novel Inborn Errors of the Immune System |
| Medium | [electronic resource] : |
| Remainder of title | Primary Immunodeficiencies with Defective Class Switch and Autoimmunity / |
| Statement of responsibility, etc | by Elisabeth Salzer. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. 2017. |
| 264 #1 - | |
| -- | Wiesbaden : |
| -- | Springer Fachmedien Wiesbaden : |
| -- | Imprint: Springer, |
| -- | 2017. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | XXIII, 76 p. 11 illus. |
| Other physical details | online resource. |
| 336 ## - | |
| -- | text |
| -- | txt |
| -- | rdacontent |
| 337 ## - | |
| -- | computer |
| -- | c |
| -- | rdamedia |
| 338 ## - | |
| -- | online resource |
| -- | cr |
| -- | rdacarrier |
| 347 ## - | |
| -- | text file |
| -- | |
| -- | rda |
| 490 1# - SERIES STATEMENT | |
| Series statement | BestMedDiss, |
| Міжнародний стандартний серійний номер для назви серії (ISSN) | 2626-7659 |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | CD27 Deficiency-Description of a Large Patient Cohort -- PRKCD Deficiency with Lupus-Like Autoimmunity -- IL-21 Deficiency Results in Very Early-Onset Inflammatory Bowel Disease. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc | In her study Elisabeth Salzer describes three novel monogenic diseases. For CD27 deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in PRKCD resulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels of IL6. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation in IL21. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune system and highlighted essential players in these complex signaling networks. Contents CD27 Deficiency-Description of a Large Patient Cohort PRKCD Deficiency with Lupus-Like Autoimmunity IL-21 Deficiency Results in Very Early-Onset Inflammatory Bowel Disease Target Groups Scientists and students in the field of pediatrics, immunology, gastroenterology, rheumatology and genetics Pediatricians About the Author Dr. Elisabeth Salzer works on the discovery and description of novel immunodeficiencies in children and adolescents at the CeMM Center for Molecular Medicine. . |
| 506 ## - RESTRICTIONS ON ACCESS NOTE | |
| Terms governing access | Available to subscribing member institutions only. Доступно лише організаціям членам підписки. |
| 506 ## - RESTRICTIONS ON ACCESS NOTE | |
| Standardized terminology for access restriction | Online access from local network of NaUOA. |
| 506 ## - RESTRICTIONS ON ACCESS NOTE | |
| Standardized terminology for access restriction | Online access with authorization at https://link.springer.com/ |
| 506 ## - RESTRICTIONS ON ACCESS NOTE | |
| Standardized terminology for access restriction | Онлайн-доступ з локальної мережі НаУОА. |
| 506 ## - RESTRICTIONS ON ACCESS NOTE | |
| Standardized terminology for access restriction | Онлайн доступ з авторизацією на https://link.springer.com/ |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Pediatrics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Immunology. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human genetics. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Pediatrics. |
| -- | http://scigraph.springernature.com/things/product-market-codes/H49006 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Immunology. |
| -- | http://scigraph.springernature.com/things/product-market-codes/B14000 |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human Genetics. |
| -- | http://scigraph.springernature.com/things/product-market-codes/B12008 |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Display text | Printed edition: |
| International Standard Book Number | 9783658167950 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Display text | Printed edition: |
| International Standard Book Number | 9783658167974 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | BestMedDiss, |
| -- | 2626-7659 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/978-3-658-16796-7">https://doi.org/10.1007/978-3-658-16796-7</a> |
| 912 ## - | |
| -- | ZDB-2-SME |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | ЕКнига |
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