Immunology
Programme sponsor
Regulatory lymphoyctes in transplantation
HLA disease associations – ankylosing spondylitis and coeliac disease
HLA disease associations – ankylosing spondylitis and coeliac disease
Immunology
Abstract
This presentation explores the pivotal role of human leukocyte antigen (HLA) genes in the pathogenesis of Ankylosing Spondylitis (AS) and Coeliac Disease (CD). HLA associations with autoimmune conditions are well-documented, and understanding these relationships provides critical insights into disease susceptibility and progression. This talk will summarise current knowledge of the role of the HLA antigens in the pathogenesis of these diseases.
Ankylosing Spondylitis (AS) is a chronic inflammatory autoimmune disorder primarily affecting the axial skeleton, sacroiliac joints, and, in some cases, peripheral joints. The disease is strongly associated with the HLA-B27 gene, found in over 90% of AS patients. HLA-B27 is a class I MHC molecule involved in antigen presentation to CD8+ T cells, and its role in AS pathogenesis is complex and still to be fully elucidated. Several mechanisms have been proposed to explain this association, including the arthritogenic peptide hypothesis, misfolding of HLA-B27 and HLA-B27 homodimer formation. The talk will cover how these mechanisms, as well as other mechanisms may cause AS.
Coeliac Disease (CD) is an autoimmune disorder of the small intestine triggered by dietary gluten. Over 95% of affected individuals express specific human leukocyte antigen (HLA) class II molecules HLA-DQ2.5, DQ2.2, or DQ8, which are central to disease pathogenesis. This presentation will explore how these HLA-DQ molecules present modified gluten peptides to CD4+ T cells, leading to the activation of cytotoxic T cells and progression of the disease. The presentation will also cover the risk of developing CD based on the individuals HLA-DQ type. The talk concludes with a discussion of emerging therapeutic strategies for CD demonstrating the many factors involved in the disease.
Speakers
Dr Nicola Speirs
UK NEQAS and BSHI guideline: Laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease
UK NEQAS and BSHI guideline: Laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease
Immunology
Abstract
The lecture will share details of why UK NEQAS created a test of guidelines to inform genetic testing in the diagnosis of Coeliac Disease. It will include information on the contents of the guidelines, the impact and the benefits of collaboration in EQA.
Speakers
Amy De’Ath
C1 esterase inhibitor (C1INH) deficiency – innovative approaches to the management of a rare condition
C1 esterase inhibitor (C1INH) deficiency – innovative approaches to the management of a rare condition
Immunology
Learning outcomes
The learning outcomes for this lecture will include:
- Understanding the Pathophysiology and Clinical Presentation of C1INH deficiency.
- Describing the role of C1 INH in the complement and kallikrein-kinin systems.
- Identifying the hallmark symptoms of C1 INH deficiency and potential triggers.
- Reviewing current Treatment options and Challenges
- Exploring alternative treatment options and research directions
Speakers
Dr Martin Gonzo
Functional plasma kallikrein assay as a diganostic tool for bradykinin-mediated angioedema
Functional plasma kallikrein assay as a diganostic tool for bradykinin-mediated angioedema
Immunology
Learning Outcomes
The learning outcomes for this lecture will include:
1. Overview of Hereditary Angioedema (HAE) and its Classifications:
This lecture will provide an in-depth understanding of Hereditary Angioedema (HAE), including the various clinical classifications of the disease. Specific focus will be given to HAE with normal C1 esterase inhibitor (HAE-nC1-INH), a subtype characterised by normal C1-INH levels. The audience will be introduced to recent discoveries of genetic mutations associated with HAE-nC1-INH, expanding the understanding of its underlying molecular mechanisms.
2. Emerging Biomarkers in HAE:
The audience will gain insight into ongoing research aimed at identifying novel biomarkers involved in HAE pathophysiology. This lecture will focus on how these biomarkers could be used to improve HAE diagnosis and patient management, particularly in cases of HAE-nC1-INH where traditional diagnostic markers (such as C1-INH levels) are inconclusive.
3. The Role of Plasma Kallikrein in the Contact System Pathway:
The lecture will also explore the role of plasma kallikrein in the contact system pathway and how its dysregulation contributes to the pathophysiology of HAE. The interaction between plasma kallikrein and other components of the bradykinin pathway will be discussed and the audience will learn how this relates to the clinical manifestations of HAE
4. Plasma Kallikrein Assay as a Diagnostic Tool:
The lecture will cover the potential use of a plasma kallikrein assay as a diagnostic biomarker for HAE-nC1-INH. The lecture will present a proposed methodology for measuring activated plasma kallikrein. Patient data from this proposed assay, comparing different types of HAE will be reviewed, illustrating the potential use of this assay for differentiating HAE subtypes and assessing HAE patients on treatment.
Speakers
Ellie Gerred
Anti-tumour necrosis factor (TNF) drugs/ antibodies – an external quality assessment perspective
Validation of a new diagnostic testing pathway for systemic autoimmune rheumatic disease in primary and secondary care
Newborn screening for severe combined immunodeficiency: The role of the flow cytometry laboratory
Antinuclear antibodies: current practice and impact of International Consensus on Antinuclear Antibody Patterns (ICAP) nomenclature
HSD management case: The evaluation of the Svar functional complement assay on the Dynex DS2
Intrathecal inflammation, the neuroimmunology lab’s role
Intrathecal inflammation, the neuroimmunology lab’s role
Immunology
Abstract
The Walton Centre Neuroimmunology lab provides insight into neuroinflammation by offering the classical tests oligoclonal bands by isoelectric focussing and CSF index. With the emergence and characterisation of CSF κ Free Light Chain, recent work has explored the benefits of alternative laboratory markers of intrathecal inflammation with practically global applications. CSF κ Free Light Chain has been recommended for the next McDonald Criteria for Multiple Sclerosis diagnosis. This presentation will introduce the many forms in which CSF κ Free Light Chain can be determined and contextualise its use in the next phase of neuroinflammation diagnostics. The presentation will summarise literature and present a Walton Centre study.
Learning outcomes
Delegates will understand the:
- The clinical lab's role in diagnosis of neuroinflammatory conditions such as multiple sclerosis.
- The use of isoelectric focussing, hyperbolic reference curves and nephelometry.
- Future developments of CSF analysis for neuroinflammation
Speakers
Nicholas Armfield
Neurofilament light chain: An emerging biomarker for neurodegenerative disease
Neurofilament light chain: An emerging biomarker for neurodegenerative disease
Immunology
Abstract
The management of neurological diseases is complex and often burdensome for patients. There is a clear clinical need to be able to monitor patients for signs of axonal damage or degeneration. Recent evidence and clinical practice have identified the measurement of neurofilament light chain (NfL) as a tool to better diagnose and monitor patients with such neurological conditions as multiple sclerosis, Alzheimer’s disease and Parkinson disease.
Generally, the sample type required for analysis is CSF, which is obtained via lumbar puncture. Advances in technology have allowed more sensitive assays to be developed which allow NfL to be detected at very low level in serum. This benefits the patient in several ways, such as reducing the number of invasive procedures and providing a simple but effective way to monitor progression and treatment of the underlying condition.
Learning outcomes
Delegates will gain a knowledge of:
- What neurofilament light chains are.
- Why increased levels are observed in certain neurological diseases.
- The different methods available for testing.
- Understand that the availability of this test has a wide range of benefits for patients undergoing diagnosis and monitoring of conditions such as Motor Neurone Disease.
Speakers
Kirsty Swallow
Clinical aspects of immune-mediated ataxia
Clinical aspects of immune-mediated ataxia
Immunology
Abstract
Immune mediated ataxias are increasingly being recognised and account for a substantial number of progressive ataxias. The discovery on novel pathogenic antibodies and the development of diagnostic criteria for primary autoimmune cerebellar ataxia (PACA) have been important milestones in the field. The talk will cover the commonest immune ataxias, discuss diagnostic aspects and their management.
Speakers
Professor Marios Hadjivassiliou
One patient’s perspective of an MS diagnosis
One patient’s perspective of an MS diagnosis
Immunology
Learning outcomes
Delegates will understand the importance of:
- There is no one size fits all in how a patient reacts to a diagnosis of a chronic condition
- Moving away from text book treatments to look at each person and their needs
- Giving patients choice in treatments.
- Helping patients have a realistic expectation of disease progression.
Speakers
Helen Parrott
Life’s good, it’s the disease that’s the problem
Life’s good, it’s the disease that’s the problem
Immunology
An inspirational true story about love, courage and determination delivered by award winning, philanthropic author Hazel Carter.
It was devastating news when Hazel’s husband, Alan, was told he had incurable motor neurone disease (MND) at age 62, but the disease did not stop the couple in their tracks.
Learn how they reacted to diagnosis, the drug trials Alan went on, and how the mindset the couple adopted enabled them to stay strong and enjoy some amazing adventures, even when Alan became 100% paralysed.
Speakers
Hazel Carter
Living with Gluten Ataxia – my personal journey
Living with Gluten Ataxia – my personal journey
Immunology
Abstract
This is the real-life experiences of living 24/7 with this autoimmune, neurological and progressive condition. It demonstrates the challenges many sufferers go through while trying to find a local specialist who understands Ataxia, and the importance of making your own informed choices when faced with doctors who generally know little about Gluten Ataxia.
During these years many tests were carried out, all were negative, and it was suggested “there is nothing wrong with you” but feeling like this was “not normal” A diagnosis of “possibly Ataxia” was devastating. Joining a support group through Ataxia UK was the best outcome so far and a chance meeting with another member suggested that gluten can cause Ataxia.
Conducting her own research there were many aspects of Ataxia that were applicable but the one that stood out was how gluten can impact negatively on the cerebellum causing atrophy and Ataxia.
With the possibility of a Gluten Ataxia diagnosis there comes an understanding that “time is critical” to going gluten-free to reduce damage to the cerebellum. Knowing that time was not on her side, Carol decided to act and go gluten-free. The rest is history!
The difference between a Traditional and a True gluten-free diet, the life changing symptoms of Ataxia, red flags that can point to a diagnosis, are all areas that will be covered in this presentation.
Learning outcomes
Delegates will:
- Recognise red flags as early as possible for the best outcomes for the patient.
- Learn what tests are needed and when on the patient’s journey.
- Understand when to encourage a gluten free diet and provide dietary advice and support.
Speakers
Carol Bullock
Opening and Closing Plenary programmes
