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

Autor Elisabeth Salzer
en Limba Engleză Paperback – 17 ian 2017
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 systemand highlighted essential players in these complex signaling networks.
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Specificații

ISBN-13: 9783658167950
ISBN-10: 3658167955
Pagini: 76
Ilustrații: XXIII, 76 p. 11 illus.
Dimensiuni: 148 x 210 x 5 mm
Greutate: 0.13 kg
Ediția:1st ed. 2017
Editura: Springer Fachmedien Wiesbaden
Colecția Springer
Seria BestMedDiss

Locul publicării:Wiesbaden, Germany

Cuprins

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.

Recenzii

“This book would be of interest to immunology clinicians as well as basic scientists. … graduate students may find this very useful in reviewing the methodology used by the author and the steps to pursue genotype-phenotype correlations. … Medical geneticists also would benefit from this book to help their diagnostic workup of patients affected by immunodeficiencies and inflammatory bowel disease. … The value of this book is in the description of the methodology and the results achieved.” (Luis F. Escobar, Doody's Book Reviews, January, 2018)
“It presents the description of 3 novel monogenic diseses found in a large cohort of patients. The results are proposed to lead to new therapeutic approaches. For immunologists, pediatricians and gastroenterologists.” (Zvi Laron, Pediatric Endocrinology Reviews (PER), Vol. 14 (4), June, 2017)

Notă biografică

Dr. Elisabeth Salzer works on the discovery and description of novel immunodeficiencies in children and adolescents at the CeMM Center for Molecular Medicine. 

Textul de pe ultima copertă

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 essentialplayers 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. 


Caracteristici

Publication in the field of medical sciences Includes supplementary material: sn.pub/extras