PIDs and healthcare in the news

January 2019

Shire Pharmaceuticals has formally announced to PID UK its acquisition by Takeda Pharmaceuticals. You can access the letter sent to PID UK here.

September 2018

Health Secretary announces ambition to map 5 million genomes

The new Secretary of State for Health, Matt Hancock MP, has announced that the NHS Genomic Medicine Service will expand the 100,000 Genomes project to include the genetic data of one milion people, with up to five million in the long term. The expansion will be accompained by a wider push to improve technological standards in the NHS, including making genomic testing routinely available. Intially, adults with rare diseases will be offered whole genome sequencing. From 2019 this will be extended to all seriously ill children.

June 2018

UKPID registry – 10th anniversary report published
The UKPID registry has recruited 4,758 patients, covering 97% of immunology centres within the UK. This represents a doubling of recruitment compared with the first report in 2013, with data now available for the majority of PID patients. The registry highlights the importance of early diagnosis to future patient health and will help doctors improve diagnostic pathways and offer best care.

May 2018

GlaxoSmithKline (GSK) hands PID gene therapy programmes over to Orchard Therapeutics

The gene therapy programmes acquired include Strimvelis, the treatment approved recently by NICE for ADA-SCID and a late stage clinical programme for Wiskott Aldrich syndrome. Orchard Therapeutics has also acquired rights to exclusively license the preclinical programme for chronic granulomatous disease from GSK partners Telethon/Ospedale San Raffaele, Italy.

October 2017

NICE recommends gene therapy for ADA-SCID
PID UK is absolutely delighted with the NICE recommendation to make the gene therapy treatment, Strimvelis, for Adenosine deaminase deficiency-SCID available to affected families. If full approval is given it will be the first gene therapy to be funded by the NHS. PID UK presented our findings from our survey of affected children to the NICE committee and showed what a huge positive transformational impact this treatment can have for children and the family unit. As one parent whose child has had gene therapy treatment stated ‘I cannot put into words how the thought of losing my daughter affected us. Gene therapy had given us and her own lives back. We no longer worry about her catching illnesses she may not have coped with before. She has no limits on her whatsoever’.

August 2017

New genetic cause of PID identified

UK immunologists have pinpointed a new genetic cause of PID – RIPK1 that causes severe immunodeficiency, arthritis and early onset inflammatory bowel disease. To date, four patients from three unrelated families have been found to carry mutations in RIPK1 (Receptor Interacting Serine/Threonine Kinase 1). Mutations result in altered working of a key cellular signal pathway and production of cell signalling molecules known as cytokines. The good news for those affected - RIPK1 is of medical interest as a drug target in other diseases and bone marrow transplant has been shown to resolve clinical problems.

April 2017

First commercial gene therapy treatment for ADA-SCID

GlaxoSmithKline says it has treated a child with Strimvelis, its gene therapy treatment for severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID). Strimvelis is the second gene therapy for an inherited disease ever to be approved for sale and the child from Europe is only the second individual ever to receive a commercial gene therapy product.

March 2017

Pioneering stem cell gene therapy cures infants with ADA-SCID
University of California, Los Angeles researchers report on the results of their gene therapy phase 2 clinical trial for babies born with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID). ADA-SCID can be fatal within the first year of life if left untreated. In this study 9 of 10 children treated by gene therapy were cured. The research was published in the Journal of Clinical Investigation.

'Smart' genetic library – making disease diagnosis much easier
Researchers at Hiroshima University have developed a smart genetic reference library for finding rare genetic variants of the STAT-1 gene. The method, called alanine scanning, assesses the functional potential of genes and should help doctors in diagnosing PID.

February 2017

X4 Pharmaceuticals have announced a Phase 2/3 clinical trial to test a new drug for WHIM syndrome, a PID characterised by warts, hypogammaglobulinemia and infections. The trial is in the USA and is not open to UK patients but is an encouraging step forward for those affected.

November 2016

Faulty RASGRP1 gene causes newly discovered human immunodeficiency
A multi-institutional, international team of scientists has discovered the genetic cause and biological mechanisms linked to a new human immunodeficiency. The study, which is published in Nature Immunology, also identifies a potential treatment. Read more here.

Zika virus and immunoglobulin therapy
The European Medicines Agency (EMA) has issued a statement confirming that there is no increased risk of contamination with the Zika virus for patients who take plasma-derived medicines. Following this the International Patient Organisation for Primary Immunodeficiencies (IPOPI) released an updated position statement on this topic.

Newborn screening for SCID
Catalonia has become the first Spanish region to introduce SCID newborn screening and from next year SCID screening will start in New Zealand.

July 2016

Grifols is ceasing to supply 10% Flebogamma DIF
The company Grifols has announced that they are ceasing to supply the product 10% Flebogamma DIF.

Grifols have issued a statement to PID UK, which can be accessed here along with a patient Q & A leaflet about this switch over process. This leaflet is also available upon request in hard copy from your immunology centre.

June 2016

Regulators have given approval for GlaxoSmithKIine approval to sell a new gene therapy for ADA-SCID.

The world's first life-saving gene therapy for children, developed by GlaxoSmithKline and Italian scientists, has been approved for sale in Europe. In a major step forward for this new technology to fix faulty genes the product called Strimvelis, is designed for children with ADA-SCID. Trial data has shown a 100 per cent survival rate for children receiving Strimvelis up to three years after the treatment.

Read the press release here.

May 2016

Maryland became the 37th state in the USA to put in place a newborn screening programme for severe combined immune deficiency (SCID). Read more here.

Renewed call to tackle antimicrobial resistance

A long-term solution to antibiotic resistance can only be achieved if we act now, an expert has said. The comment comes as NICE launches a new quality standard that aims to help healthcare professionals and organisations tackle the problem.

March 2016

Gene therapy hit the headlines when the European Medicines Agency endorsed the use for children with ADA-SCID who do not have a bone marrow match. Read more here.

This landmark event was covered in the METRO newspaper and the magazine New Scientist and included a mention of PID UK.

January 2016

Results reported from USA gene therapy study for X-SCID

Researchers at the National Institutes of Health, in the USA, have reported on the safety and effectiveness of gene therapy for five X-SCID patients, aged 7 to 24 years old. The study used a lentiviral-based delivery system, called a vector, for transferring the corrective gene into the patients’ cells. The study showed restoration of immunity in children and young adults with this rare immunodeficiency. Read more here.

May 2015

Newborn screening for SCID extended to another USA state

The USA state of Virginia has added SCID to its newborn screening programme. Read the full story here.

SHARE is a new NHS Research Scotland initiative created to establish a register of people interested in participating in health research and who agree to allow SHARE to use the coded data in their various NHS computer records to check whether they might be suitable for health research studies. This access can be incredibly useful when it comes to developing new treatments and cures for a wide variety of health conditions. Read how you can take part here.

Call for $2bn global antibiotic research fund

'We need to kick-start drug development to make sure the world has the drugs it needs, to treat infections and to enable modern medicine and surgery to continue as we know it." says economist Jim O'Neill. Read more at the BBC website here.

Gene therapy for ADA-SCID

A European Marketing Application (EMA) has been made by GlaxoSmithKline (GSK) to the European Medicines Agency requesting approval of GSK’s stem cell gene therapy for adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID). This has come to fruition through collaboration with the Fondazione Telethon, an Italian biomedical charity and researchers at the Telethon Institute for Gene Therapy. This news is built upon years of effort from many contributors in the field of primary immunodeficiencies including PID patient groups, who have for long time supported the research on stem cell gene therapy.

Find out more here.

April 2015

Gene therapy for Wiskott-Aldrich syndrome

BBC news highlighted results from a gene therapy trial at Great Ormond Street Hospital, in London, and Necker Children's Hospital, in France. The results were published in the Journal of the American Medical Association and used a modified 'tame' version of the HIV virus, known as a lentiviral vector, to infect and carry the corrective DNA into the patients' bone marrow cells. In six out of seven boys, the therapy was a success but sadly one patient died 7 months after treatment of preexisting drug-resistant herpes virus infection. For the six surviving patients gene therapy reversed the symptoms of eczema, susceptibility to infection, improved autoimmunity problems and massively cut the number of nights spent in hospital.

Read the abstract of the work here.

PID Clinical Interpretation Partnership update - Genomics England gives go-ahead

With huge backing from the UK Primary Immunodeficiency Network (UKPIN) community, more than 120 clinicians and researchers from all over the UK have come together to form a 'clinical interpretation partnership' (GeCIP) to make sure the benefits of the 100,000 genomes project are delivered for patients with PID.

In fantastic news for affected families, PIDs were among the rare disorders prioritised by Genomics England in the 100,000 genomes project.  Its key aim is to harness the benefits of using modern techniques to detect the genetic causes of disease.

'This provides a great opportunity to improve rates of diagnosis and increase understanding of PID at the same time. We are thrilled to have been given the go-ahead by Genomics England and look forward to rolling out this programme in the coming months,' said Professor Sophie Hambleton, Honorary Immunologist at Great North Children's Hospital, Newcastle, who helped coordinate the application to Genomics England on behalf of the UKPIN Genomics Steering Group.

Read about the 100,000 genomes project and find out more about the work of GeCIP here. 

Council of Europe adopts an official Resolution on Principles of Immunoglobulin Therapies for Immunodeficiency and Other Diseases

The Resolution CM/Res(2015)2 on Principles regarding Immunoglobulin Therapies for Immunodeficiency and Other Diseases, adopted on the 15th of April, outlines key messages such as: the importance of making 'available to patients all recognised routes of human normal immunoglobulin administration', 'to take into account that human normal immunoglobulin therapeutic products differ from one another in terms of production processes' and to 'guarantee the traceability of blood and blood products'.

Jose Drabwell, IPOPI President, stated: 'We are delighted that with this Resolution the Council of Europe has formally recognised vital recommendations concerning immunoglobulin therapies and their use in different indications including Primary Immunodeficiencies (PIDs)'. Jose added: 'The fact the resolution has come out just in time for the World Primary Immunodeficiency Week (WPIW) to be held from 22 to 29 April 2015 will further raise awareness about the essential nature of immunoglobulin therapies and their importance in the treatment of patients living with primary immunodeficiencies'.

Read the full IPOPI press release with further information on the Council of Europe.

The official Resolution can be viewed here.

March 2015

Norway approves pilot project for SCID newborn screening

The SCID newborn screening pilot project has been approved by the Norwegian Ministry of Health and will be launched March 16th. This encouraging development aims to screen 14,000 newborns in Norway for a year and then, expand it to 60,000 newborns throughout the country in a full-scale programme. Norway will be the first country in Europe to implement the scheme.

Read more on the IPOPI website here.

Scottish Public Inquiry into Hepatitis C/HIV acquired infection from NHS treatment in Scotland through blood transfusion and blood products.

Lord Penrose has reported on the Scottish Public Inquiry into HepatitisC/HIV acquired infection from NHS treatment in Scotland through blood transfusion and blood products.

PID UK has received a letter from Shona Robison MSP, Cabinet Secretary for Health, Wellbeing and Sport, outlining the implications for patient safety, NHS Scotland and the Scottish Government Health and Social Care Directorate.

The Penrose report recommends that the Scottish Government takes all reasonable steps to offer an Hepatitis C Virus (HCV) test to everyone in Scotland who had a blood transfusion before September 1991 and who has not been tested for HCV. You can read more about the Inquiry and access the report and executive summary here.

Devolved Health Care for Manchester

News that £6bn/year of health spending will be handed over to Greater Manchester has prompted questions as to how this will affect the care of people who need specialised care, such as the PID community. The change planned is to join local health and social care into a single commissioning framework. 

Dr Matthew Buckland, Chair of PID UK's Medical Advisory Panel, gives his views on this development and its possible implications for PID patients:

'The current separation between health and social care budgets does not incentivise joint working in the best interest of patients.  Agencies currently split between NHS and social care funding with limited budgets would be strategically aligned under the proposed Manchester venture, hopefully facilitating more streamlined care, particularly for those with complex, chronic and sometimes terminal conditions.

At present the funding for specialised services is distinct, from NHS England,  and PID is included within that.  We could infer that at present the funding of PID centres would be unaffected by the Manchester proposal and that PID centres will continue to receive funding directly from NHS Egnland.  In 2016 if the proposed co-commissioning with CCGs is implemented, there are potential opportunities (and risks) for clinical immunology and patients with PID.  If services are to reflect local need, then the town hall input into local decision making puts elected local individuals, who are publicly accountable at the front line and answerable directly for the local provision.

We of course have an election on the horizon and much may change after that.  There has been ministerial reassurance that a post-code lottery will not recur following any of the proposed changes, but the co-commissioning risk-sharing proposals suggest that near future budgets for PID could be capped at current activity levels.  For those concerned how this may affect their local services and to obtain a better understanding of the landscape, PID UK, working the Specialised Healthcare Alliance, would encourage you to write to your MP.'


  • Greater Manchester Combined Authority website articles:

Caring for Greater Manchester together

Greater Manchester and NHS England have announced groundbreaking plans around the future of health and social care.

5th PID Forum at the European Parliament

IPOPI has published its report 'A comprehensive framework of care and policy for PIDs’ at the 5th PID Forum at the European Parliament. It sets out recommendations at the EU and global level to ensure pID patients get the care and treatments they need.

December 2014

Vigam and Gammaplex immunoglobulin products

Bio Products Laboratory (BPL) Ltd have announced that they are unable to supply Vigam and Gammaplex immunoglobulin products, to many of the UK NHS trusts, due to unpredictable production issues.

If you are on these products and are concerned, our advice is to contact your centre to discuss your treatment going forward. 

Dr Ernie Gasgoigne, Head of Medical Affairs at BPL Ltd, has issued the following statement to PID UK:

'BPL take this situation extremely seriously and are fully aware of the issues that this situation creates for the patients who usually receive these products.  Our Customer Services Department have endeavoured to communicate as quickly as possible to the hospitals concerned so that they could look at their stock and if necessary make other plans for patients unable to receive their usual Immunoglobulin product.  Also, BPL's Commercial teams are working very hard to assist in communicating the supply issues to key personnel in all of the Trusts concerned and will help as much as they can if switching to other suppliers' products is necessary.  BPL have communicated this information as quickly as possible in order to give everyone as much time as possible to source other products as we are aware that it is a busy time on the run up to Christmas.

Importantly, BPL are currently investing large amounts of money in improving the production facilities at our Elstree factory to increase overall capacity and improve continuity of supply. This means that the plant is currently shut down, as planned, until the New Year, and we anticipate that the supply situation will not improve until the second quarter of 2015.'

November 2014

University College London and Royal Free researchers hail new gene discovery

Professors at the UCL Institute of Immunity and Transplantation have discovered a faulty copy of a single gene – CTLA4 – leads to primary immunodeficiency. The discovery was published in the journal Nature Medicine. The research showed that people need two healthy copies of CTLA4 for their immune system to function properly. People with only one copy have changes in the balance of their T and B cells and develop a complex immune dysregulation syndrome with autoimmune complications. The discovery means that drugs can be used to target the body's natural CTLA4 in affected patients to help treat their autoimmune symptoms.
Read more here.

October 2014

CVID and Radio 4's Inside Health!

Listen to Dr Mark Porter's interview with Jose Drabwell, President of IPOPI, Dr Siobhan Burns and CNS Andrew Symes, from the Royal Free Hospital talking about CVID and PIDs and how a simple, cheap blood test and joined up care will improve diagnosis.

Start time 10.34 min - 22.21 min.

Gene therapy: a treatment coming of age

A decade ago many people had written off gene therapy altogether but now there are dozens of trials in progress around the world. This review in The Pharmaceutical Journal gives a great insight into where we are with the development of gene therapy medicines for a range of conditions including the primary immune deficiency SCID.

September 2014

New enterovirus D68 and respiratory infections

The International Patient Organisation Primary Immunodeficiencies (IPOPI) has alerted us of reports in the media about a new enterovirus, called enterovirus D68, which has been affecting children with respiratory infections and breathing problems, sometimes severely. The new virus has mainly been reported in the US but also locally in some other countries.

Whilst there is no report of the virus affecting PID patients and therefore no need to be alarmed, it is useful for PID patients to be aware of the existence of this virus and to know its symptoms and signs. Particularly as PID patients are more prone to the type of infections caused by the virus.

IPOPI recommend that you read the information provided by the US Centre for Disease Control (CDC) on their dedicated webpage describing symptoms and providing advice on this new virus.

August 2014

New hope for 'bubble boy' disease

A study published in the New England Journal of Medicine provides a powerful argument for the expansion of newborn screening for SCID.

July 2014

Newborn Screening Now in 21 States for Life-Threatening Immune Disease

With the recent addition of newborn screening for Severe Combined Immune Deficiency (SCID) in New Jersey and Illinois, approximately two-thirds of all babies born in the U.S. will be screened for this deadly disease.

Read the full story here.

June 2014

Polio - important international travel alert

The Centre for Disease and Prevention (CDC) has issued a travel alert in light of the recent World Health Organisations’ recent declaration of polio as an international public health emergency.

This travel warning is for people intending to travel to countries where active wild poliovirus is present (see list below).

Polio is caused a virus known as enterovirus.

The implications for people with PID

The CDC recommends that people planning to travel to a country with active wild poliovirus receive the inactivated poliovirus (IPV) booster. Travelers should document proof of immunisation to avoid travel delays. The U.S. is not planning to change its requirements for U.S. entry.

Please also note that for many PIDs, oral vaccine is contra-indicated.

Please visit our information on immunisations in PIDs.

Remember advice should always be sought from your specialist immunologist before you have any immunisations.

For patients on immunoglobulin replacement therapy

The recommendation to have a polio booster does not apply to PID patients already on Ig replacement therapy.

However the International Patient Organisation for Primary Immunodeficiencies (IPOPI) medical advisory panel recommends that patients on Ig replacement therapy who need to travel to these places should verify that their IgG trough levels is adequate (i.e. the highest possible since enterovirus infections of the gut and/or the brain can occur if not adequately replaced).

The countries where active wild poliovirus is present

In its declaration, the WHO noted that 10 countries have ongoing poliovirus transmission and have issued the advice below:

  • Cameroon, Pakistan, and Syria have recently exported wild poliovirus. Residents and people traveling to these countries for more than 4 weeks are required to receive IPV or oral polio vaccine 4 to 52 weeks before departing these countries.
  • Afghanistan, Equatorial Guinea, Ethiopia, Iraq, Israel, Somalia, and Nigeria are infected with poliovirus but have not yet exported it. Residents and long-term travelers to these countries are encouraged to get boosters.

Read more at:

Source: IPOPI 12th June 2014.

November 2013

Gene therapy back on track with 5 children with ADA-SCID successfully treated

Dr Bobby Gaspar, a member of the PID UK Medical Advisory Panel presented the preliminary results for the first two children to receive the improved SCID gene therapy – 18 months ago – at the European Society of Gene and Cell Therapy conference in Madrid, Spain in October.

The children have a form of severe combined immunodeficiency (SCID), known as ADA-SCID.  ‘The children's immune systems have continued to improve since receiving the treatment’, says Bobby Gaspar of Great Ormond Street Hospital in London, who led the trial. Three more children have been treated since then, and they too are showing signs of a full recovery.

Read the full story here.

October 2013

Launch of PID UK highlighted in IPOPI newsletter

In September this year PID UK became an associate member of the International Patient Organisation for Primary Immunodeficiencies (IPOPI). Find out more here.

IPOPI's Autumn newsletter

Find out about what in happening internationally to support people affected by PIDs.

September 2013

The company Perkin-Elmer launches the first commercially available newborn screening assay for SCID

Early intervention is key for children affected by SCID. This test is intended to provide accurate results, minimise the number of steps taken towards a SCID diagnosis and save lives.  Read more here. You can access a video presentation by Professor Gaspar on the Clinical Consequences of SCID and the Case for Newborn Screening at this link.

July 2013

Focus on primary immune deficiency and PID UK in The Independent

PID UK and primary immunodeficiencies were highlighted in a supplement on living with chronic diseases in The Independent newspaper. The supplement carried quotes from the PID UK Director, Dr Susan Walsh and a story from Michael who has Wiskott-Aldrich Syndrome. You can download the supplement here.

June 2013

The Royal Free Hospital opens the UCL Institute of Immunity and Transplantation

The Royal Free Hospital looks after the largest number of patients with a Primary Immunodeficiency in the United Kingdom. On the 10th June the first phase of a major global medical research centre for immunity and transplantation was officially opened by HRH the Duke of York Prince Andrew. Read more here.

CVID featured in the Daily Mail

Do these symptoms sound familiar - lots of throat infections, sinusitis, chest infections and conjunctivitis and lots of courses of antibiotics in a year? These are just some of the symptoms that led Mrs Margeret Bennett and her doctors to a diagnosis of CVID.

Margaret, from Birmingham and Dr Aarn Huissoon, from the Heartlands Hospital in Birmingham tell their story in the Daily Mail. The article highlights the problem of under diagnosis of PIDs in adults, its consequences and makes the recommendation that doctors should consider testing for a PID when a person is prescribed more than five lots of antibiotics in a year. Read more here.

April 2013

Start of Public Health England

Public Health England (PHE) is a new executive agency of the Department of Health, which started operations at the beginning of April. It brings together public health specialists into a single public health service, including the old Health Protection Agency. As part of its role, PHE will fund research.

In a new video,  Duncan Selbie, PHE chief executive, talks about the organisation’s remit and vision, to focus on ‘the poorest and the most poorly’, to fill in the gaps in UK health provision. He talks about the need to share spread practical knowledge by linking up government with organisations who have made successful health interventions.

Changes to England's Health and Care System Explained

From April 1st the health care system in England has changed.

Here is the Government guide to how the new provision works:

March 2013

Discovery of Previously Unknown Immunodeficiency

A research group in Vienna have identified a previously unknown B-cell defect. This has been made possible by a new, rapid way of sequencing DNA called ‘next generation sequencing’.

Read more

February 2013

PID UK and primary immunodeficiency diseases featured in a supplement in The Independent.

On Rare Disease Day, PID UK and primary immunodeficiencies were highlighted in a supplement on rare diseases which was featured in The Independent. The supplement featured a story from Diane who has CVID. A free digital version of the supplement is available to download here: Rare diseases: living beyond a diagnosis.