Identifying Novel Inborn Errors of the Immune System (Post nr. 3758)

MARC-detaljer
000 -LEADER
fixed length control field	03275nam a22004815i 4500
001 - CONTROL NUMBER
control field	60513
005 - DATE AND TIME OF LATEST TRANSACTION
control field	20200226102419.0
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
035 ## - SYSTEM CONTROL NUMBER
System control number	(DE-He213)978-3-658-16796-7
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
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.
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.
264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Place of production, publication, distribution, manufacture	Wiesbaden :
Name of producer, publisher, distributor, manufacturer	Springer Fachmedien Wiesbaden :
--	Imprint: Springer,
Date of production, publication, distribution, manufacture, or copyright notice	2017.
300 ## - PHYSICAL DESCRIPTION
Extent	XXIII, 76 p. 11 illus.
Other physical details	online resource.
336 ## - CONTENT TYPE
Content type term	text
Content type code	txt
Source	rdacontent
337 ## - MEDIA TYPE
Media type term	computer
Media type code	c
Source	rdamedia
338 ## - CARRIER TYPE
Carrier type term	online resource
Carrier type code	cr
Source	rdacarrier
347 ## - DIGITAL FILE CHARACTERISTICS
File type	text file
Encoding format	PDF
Source	rda
490 1# - SERIES STATEMENT
Series statement	BestMedDiss
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. .
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Medicine.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Human genetics.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Immunology.
650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Pediatrics.
650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Medicine & Public Health.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Pediatrics.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Immunology.
650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element	Human genetics.
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
Relationship information	Printed edition:
International Standard Book Number	9783658167950
830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE
Uniform title	BestMedDiss
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier	<a href="http://dx.doi.org/10.1007/978-3-658-16796-7">http://dx.doi.org/10.1007/978-3-658-16796-7</a>
912 ## -
--	ZDB-2-SME

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