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Identifying Novel Inborn Errors of the Immune System : Primary Immunodeficien
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eBay-Artikelnr.:365849095687
Artikelmerkmale
- Artikelzustand
- Book Title
- Identifying Novel Inborn Errors of the Immune System : Primary Im
- ISBN
- 9783658167950
Über dieses Produkt
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
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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Angemeldet als gewerblicher Verkäufer
Verkäuferbewertungen (410.548)
- u***n (25)- Bewertung vom Käufer.Letzter MonatBestätigter KaufThis unique book was priced quite reasonable. The book was advertised as new and arrived in mint condition and in the highest authentic hard cover quality. It Packaging was very good when mailed. I also find communicating with the seller during the shipping process, which was a bit of a wait for a very hard to find book, was very prompt and inspired trust. I highly recommend this seller and will return for future purchases.
- e***r (2735)- Bewertung vom Käufer.Letzte 6 MonateBestätigter KaufAAA+++; Excellent Service; Great Pricing; Fast Delivery-Faster Than Expected to Chicago using free shipping USPS Media Mail, Received 06/18; book in Great Condition as Described ; TLC Packaging; Excellent Seller Communication, Sends updates . Highly Recommended!, Thank you very much!
- f***f (1669)- Bewertung vom Käufer.Letzter MonatBestätigter KaufExcellent Seller, Goes the Extra Mile. The Seller Was Incredibly Communicative. Smooth Transaction, Shipped Very Quickly, As Advertised; Good Price; Well Packaged & Delivered Within a Few Days. Item in Described Promised Condition, Thank You Very Much!!!!!!!!!!! A+