Identifying Novel Inborn Errors of the Immune System : Primary Immunodeficiencies with Defective Class Switch and Autoimmunity

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 iden...

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Bibliographic Details
Main Author: Salzer, Elisabeth. (Author)
Corporate Author: SpringerLink (Online service)
Format: eBook
Language: English
Published: Wiesbaden : Springer Fachmedien Wiesbaden : Imprint: Springer, 2017.
Series: BestMedDiss
Subjects:
Medicine.
Human genetics.
Immunology.
Pediatrics.
elektronické knihy
electronic books
ISBN: 9783658167967
Physical Description: XXIII, 76 p. 11 illus. online resource.

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008 170103s2017 gw | s |||| 0|eng d
020 |a 9783658167967 
024 7 |a 10.1007/978-3-658-16796-7  |2 doi 
100 1 |a Salzer, Elisabeth.  |e author. 
245 1 0 |a Identifying Novel Inborn Errors of the Immune System :  |b Primary Immunodeficiencies with Defective Class Switch and Autoimmunity /  |c by Elisabeth Salzer. 
264 1 |a Wiesbaden :  |b Springer Fachmedien Wiesbaden :  |b Imprint: Springer,  |c 2017. 
300 |a XXIII, 76 p. 11 illus.  |b online resource. 
336 |a text  |b txt  |2 rdacontent 
337 |a počítač  |b c  |2 rdamedia 
338 |a online zdroj  |b cr  |2 rdacarrier 
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. 
506 |a Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty 
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 Medicine. 
650 0 |a Human genetics. 
650 0 |a Immunology. 
650 0 |a Pediatrics. 
655 7 |a elektronické knihy  |7 fd186907  |2 czenas 
655 9 |a electronic books  |2 eczenas 
710 2 |a SpringerLink (Online service) 
776 0 8 |i Printed edition:  |z 9783658167950 
830 0 |a BestMedDiss 
856 4 0 |u https://proxy.k.utb.cz/login?url=http://dx.doi.org/10.1007/978-3-658-16796-7  |y Plný text 
992 |c NTK-SpringerMED 
999 |c 101298  |d 101298 
993 |x NEPOSILAT  |y EIZ 

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