Identifying Novel Inborn Errors of the Immune System : Primary Immunodeficien...

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Última actualización el 26 nov 2025 22:06:33 H.EspVer todas las actualizacionesVer todas las actualizaciones

Características del artículo

Estado
Nuevo: Libro nuevo, sin usar y sin leer, que está en perfecto estado; incluye todas las páginas sin ...
Book Title
Identifying Novel Inborn Errors of the Immune System : Primary Im
ISBN
9783658167950
Categoría

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Product Identifiers

Publisher
Springer Fachmedien Wiesbaden Gmbh
ISBN-10
3658167955
ISBN-13
9783658167950
eBay Product ID (ePID)
240460942

Product Key Features

Number of Pages
Xxiii, 76 Pages
Publication Name
Identifying Novel Inborn Errors of the Immune System : Primary Immunodeficiencies with Defective Class Switch and Autoimmunity
Language
English
Publication Year
2017
Subject
Pediatrics, Immunology, Genetics
Type
Textbook
Subject Area
Medical
Author
Elisabeth Salzer
Series
Bestmeddiss Ser.
Format
Trade Paperback

Dimensions

Item Weight
49.7 Oz
Item Length
8.3 in
Item Width
5.8 in

Additional Product Features

Reviews
"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), "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)
Number of Volumes
1 vol.
Illustrated
Yes
Table Of Content
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.
Synopsis
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., 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.
LC Classification Number
RJ1-570

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