Faculty of Medical Sciences

Primary Immuno Deficiency

Primary Immuno Deficiency

Theme Leader

Sophie Hambleton & Desa Lilic

Major Research Themes

The PID group comprises a group of clinicians and scientists working together to improve the understanding, diagnosis and management of primary immune deficiency diseases. Although very patient-focussed, our research has broad implications for understanding the human immune system in health and disease.

Our main research themes are

  • Clinical phenotypes and natural history of PIDs
  • Molecular/biochemical definition and pathogenesis of primary immune deficiency disease (PID)
  • Current and translational PID-specific treatments

Funding

  • The Sir Jules Thorn Charitable Trust
  • The Bubble Foundation
  • Jeffrey Modell Foundation
  • European Commission
  • PIA
  • Wellcome Trust ISSF

Expertise

  • Gene discovery in novel human disorders of innate and adaptive immunity
  • Application of next generation sequencing to molecular diagnostics in PID
  • Molecular pathogenesis of heightened susceptibility to viral, mycobacterial and fungal infection (Chronic Mucocutaneous Candidiasis - CMC) and autoimmunity (Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy - APECED syndrome
  • Natural history of PID (Chronic Granulomatous Disease (CGD), DNA repair disorders, SCID-Omenn's)
  • Optimal strategies for stem cell transplantation (HSCT) as curative therapy for PID
  • Health-related quality of life in PID with and without HSCT

Key Collaborations

  • Clinical immunology services at the Great North Children's Hospital & RVI, as the Great North Centre for Immune Deficiency (a JMF diagnostic centre)
  • Close links with ICM: Human DC Group, Musculoskeletal Group, Liver Group
  • Collaborations across Newcastle University: Institutes of Genetic Medicine, Cell & Molecular Bioscience, Ageing, Cancer Research, Health and Society; Policy, Ethics and Life Sciences
  • UK-wide: Universities of Birmingham, Oxford, St Andrews, Sussex
  • 100,000 Genomes project (immune disorders GeCIP lead)
  • NIHR Rare Diseases Translational Research Collaboration
  • Internationally: NIH, Maryland, USA; Harvard University, USA
  • Radboud University, Nijmegen, Netherland; Institut Imagine, Paris, France; Tartu University, Estonia; Freiburg University, Germany; Erasmus University, Rotterdam, Netherlands

Developing Researchers

  • The PID group provides academic and clinical postgraduate and postdoctoral training
  • We host undergraduate, MRES, MD, and PhD students, Clinical Fellows and Postdoctoral Scientists
  • We provide formal undergraduate, postgraduate, postdoctoral and clinical training both locally, and through national and international initiatives such as the summer schools of the BSI and ESID

Impact and Engagement

Direct benefits to research participants & their families:

  • molecular diagnosis supports timely treatment decisions, presymptomatic screening and genetic counselling
  • clinical research is extending the benefits of HSCT to new patient groups and reducing the risks by better transplant conditioning
  • Specialist "Candida" clinics for the diagnosis, treatment and follow-up of patients with PIDs and susceptibility to fungal infections (unique in UK)
  • Providing new, specific diagnostic tests based on research results

Extending the benefits to a broader patient base - professional network:

  • European Society for ImmunoDeficiencies
  • UK Primary Immunodeficiency Network
  • Inborn Errors working party of the European Group for Blood and Marrow Transplantation

Raising awareness - outreach to primary/secondary care and the public:

  • Bubble Foundation
  • Jeffrey Modell Foundation
  • annual "Graham and Jenny Watson" infection and immunity study days

Related Websites

Staff List

Dr Mario Abinun
Associate Lecturer

Email:
Telephone: +44 (0) 191 233 6161

Dr Venetia Bigley
Wellcome Intermediate Clinical Fellow

Email:
Telephone: 0191 282 1570

Professor Andrew Cant
Hon Clin Prof Paediatric Immunology

Email:

Professor Anne Dickinson
Professor of Marrow Transplant Biology

Email:
Telephone: +44 (0) 191 208 6794

Dr Andrew Gennery
Clinical Reader/Consultant

Email:
Telephone: +44 (0) 191 282 5234

Professor Sophie Hambleton
Professor of Paediatrics & Immunology

Email:
Telephone: +44 (0) 191 208 7139

Dr Desa Lilic
Associate Clinical Lecturer

Email:

Dr Mary Slatter
Associate Clinical Lecturer

Email:
Telephone: +44 (0) 191 282 3767

Dr Gavin Spickett
Consultant/Senior Lecturer

Email:
Telephone: +44 (0) 191 212 4281

Dr Stephen Todryk
Honorary Lecturer

NHS Trust Staff

  • Dawn Barge
  • Helen Bourne
  • Zohreh Nademi
  • Catherine Stroud
  • Terry Flood