rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: Identifying Novel Inborn Errors of the Immune System
    sub title: Primary Immunodeficiencies with Defective Class Switch and Autoimmunity
  name:
    name part: Salzer, Elisabeth.
    role:
      role term: creator
    role:
      role term: author.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: gw
    date issued: 2017
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XXIII, 76 p. 11 illus. online resource.
  abstract: 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. .
  table of 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.
  note: by Elisabeth Salzer.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Immunology
  subject:
    topic: Pediatrics
  subject:
    topic: Medicine & Public Health
  subject:
    topic: Pediatrics
  subject:
    topic: Immunology
  subject:
    topic: Human Genetics
  classification: RJ1-570
  classification: 618.92
  related item:
    title info:
      title: Springer eBooks
  related item:
    title info:
      title: BestMedDiss
  identifier: 9783658167967
  identifier: http://dx.doi.org/10.1007/978-3-658-16796-7
  record info:
    record creation date: 170103
    record change date: 20170103140351.0
    record identifier: 978-3-658-16796-7