Immunodeficiency (HLS272)

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Immunodeficiency (HLS272)

Module Objective

By the end of the training period trainees will, in respect to developing a working knowledge of primary immune deficiencies, their presentations, investigations and treatment, be able to:

  • analyse, synthesise, evaluate and apply knowledge
  • perform, adapt and master a range of technical and clinical skills and procedures and
  • demonstrate the attitudes and behaviours necessary for professional practise as a Consultant Clinical Scientist dealing with the complexities, uncertainties and tensions of professional practise at this level

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to:

  • the principles of Immunology
  • the maturation of T cells, B cells and NK cells in healthy
  • DNA structure and gene expression, organisation of the human genome, inheritance, somatic and germline mutations and mutational mechanisms
  • T cell receptor and immunoglobulin gene rearrangements during lymphocyte maturation
  • immune reconstitution post-transplant (T and B cell subsets, TCR spectratyping, TRECS)
  • flow cytometry for the analysis of lymphocyte subsets and T and B cell
  • the interpretation of T, B and NK cell subset profiles from immunodeficient patients
  • the biology of all PIDS
  • the diagnostic criteria and their application for all PIDS
  • the concept of integrated clinical reporting
  • the molecular genetic characteristics of various immunodeficient diseases (XLA, SCID, CGD, WASP, BTK, CD40, HLH, SAP) as well as CVID, SpAD, IGAD, XLA, HIGM syndromes
  • the selection of appropriate laboratory investigations
  • knowledge of therapeutic interventions
  • sequence analysis of Nemo, TACI , Factor XII
  • genome sequencing
  • the principle of gene therapy

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance, adaptation and mastery of the following technical procedures and laboratory skills:

  • Methodology, principles and practise, assay design, sequence analysis
  • Interpretation of gene expression, sequence analysis, TCR and Ig repertoire analysis
  • Understand the implications of gene therapy
  • Knowledge and understanding of ethical aspects of diagnosis and sample collection