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Identifying Novel Inborn Errors of the Immune System by Elisabeth Salzer, ISBN-13: 978-3658167974

$14.99

Description

  • Format: PDF
  • Publisher: ‎ Springer (January 7, 2017)
  • Language: ‎ English
  • 102 pages
  • ISBN-10: ‎ 3658167971
  • ISBN-13: ‎ 978-3658167974

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

Review

“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)

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