國立虎尾科技大學 |

Identifying novel inborn errors of the immune system = primary immunodeficiencies with defective class switch and autoimmunity /

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Identifying novel inborn errors of the immune system/ by Elisabeth Salzer.
Reminder of title:	primary immunodeficiencies with defective class switch and autoimmunity /
Author:	Salzer, Elisabeth.
Published:	Wiesbaden :Springer Fachmedien Wiesbaden : : 2017.,
Description:	xxiii, 76 p. :ill., digital ; : 24 cm.;
Contained By:	Springer eBooks
Subject:	Immunologic diseases - Genetic aspects. -
Online resource:	http://dx.doi.org/10.1007/978-3-658-16796-7
ISBN:	9783658167967

Identifying novel inborn errors of the immune system = primary immunodeficiencies with defective class switch and autoimmunity /
Salzer, Elisabeth.

Identifying novel inborn errors of the immune systemprimary immunodeficiencies with defective class switch and autoimmunity /[electronic resource] :by Elisabeth Salzer. - Wiesbaden :Springer Fachmedien Wiesbaden :2017. - xxiii, 76 p. :ill., digital ;24 cm. - BestMedDiss. - BestMedDiss..

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.

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.

ISBN: 9783658167967

Standard No.: 10.1007/978-3-658-16796-7doiSubjects--Topical Terms:

1250725
Immunologic diseases
--Genetic aspects.

LC Class. No.: RC582

Dewey Class. No.: 616.97042

Identifying novel inborn errors of the immune system = primary immunodeficiencies with defective class switch and autoimmunity /
LDR:02736nam a2200325 a 4500 001 958523
003 DE-He213
005 20170816120255.0
006 m d
007 cr nn 008maaau
008 201118s2017 gw s 0 eng d
020 $a 9783658167967 $q (electronic bk.)
020 $a 9783658167950 $q (paper)
024 7 $a 10.1007/978-3-658-16796-7 $2 doi
035 $a 978-3-658-16796-7
040 $a GP $c GP
041 0 $a eng
050 4 $a RC582
072 7 $a MJW $2 bicssc
072 7 $a MED069000 $2 bisacsh
082 0 4 $a 616.97042 $2 23
090 $a RC582 $b .S186 2017
100 1 $a Salzer, Elisabeth. $3 1250724
245 1 0 $a Identifying novel inborn errors of the immune system $h [electronic resource] : $b primary immunodeficiencies with defective class switch and autoimmunity / $c by Elisabeth Salzer.
260 $a Wiesbaden : $c 2017. $b Springer Fachmedien Wiesbaden : $b Imprint: Springer,
300 $a xxiii, 76 p. : $b ill., digital ; $c 24 cm.
490 1 $a BestMedDiss
505 0 $a 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 $a 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 $a Immunologic diseases $x Genetic aspects. $3 1250725
650 0 $a Rare diseases. $3 1021157
650 1 4 $a Medicine & Public Health. $3 593949
650 2 4 $a Pediatrics. $3 644839
650 2 4 $a Immunology. $3 592892
650 2 4 $a Human Genetics. $3 593893
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer eBooks
830 0 $a BestMedDiss. $3 1103229
856 4 0 $u http://dx.doi.org/10.1007/978-3-658-16796-7
950 $a Medicine (Springer-11650)