Network for rare immune condition set up

A new NHS network aimed at sharing knowledge about a rare condition affecting the immune system has been created.

This NHS rare disease collaborative network (RDCN) will play a key role in advancing diagnosis and treatment for mendelian susceptibility to mycobacterial disease (MSMD), a rare disease that affects the immune system, increasing risk of severe infections in different parts of the body.

The RDCN - announced on 28 February 2025, Rare Disease Day - is led from Cambridge University Hospitals NHS Foundation Trust (CUH) and involves clinicians from Oxford University Hospitals (OUH) NHS Foundation Trust, The Newcastle upon Tyne Hospitals NHS Foundation Trust and Royal Papworth NHS Foundation Trust.

The network's leads at OUH are Dr Smita Patel, Consultant Immunologist, and Professor Dominic Kelly, Consultant in Paediatrics and Paediatric Infectious Disease.

An estimated 150,000 people in the world have MSMD, but many are currently undiagnosed.

MSMD is caused by genetic changes that weaken the body's defences against infections. People with MSMD are particularly at risk of infections caused by a group of bacteria called mycobacteria. This includes bacteria that cause tuberculosis.

Without specialist care, people with MSMD develop multiple, long-lasting infections that can quickly become life-threatening. In some cases, the infections are caused by species of bacteria that would typically be harmless to humans.

People with MSMD often depend on treatment involving long-term, carefully monitored use of antibiotics. More severe cases can require bone marrow transplants.

The disease is extremely difficult to diagnose as its severity varies greatly between people. Their weakness to infections can cause a wide range of symptoms during childhood and into adulthood.

The UK already plays a leading role in advancing our understanding of MSMD, thanks to a unique combination of research and clinical expertise.

The aim of RDCNs is to bring people with rare diseases together with leading scientists and clinicians to improve understanding of these conditions.

Dr Patel said: "We have 11 MSMD patients at OUH and I'm hoping the creation of this RDCN will provide invaluable information on how this rare disease impacts on their lives and how we can improve the care and support we provide to them. But we also hope it will lead to better diagnostic and evidence-based treatment protocols."

Find out more about NHS RDCNs:

NHS commissioning » Rare disease collaborative networks

Visit CUH's website and find out about Geraldine, the world's oldest person living with MSMD.