22-29 April, 2026
Before and After Stories
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What are World PI Week’s Before and After Stories?
Our Before and After Stories bring to life the real-world impact of bold actions, initiatives, and policy changes that have transformed outcomes for people living with Primary Immunodeficiencies – proving the difference that decisive leadership and committed collaboration can make.
Each story follows the real-life actions of an individual or organization that has made a tangible difference to the Primary Immunodeficiency community, reflecting on the impact achieved and the lessons we can carry forward into the future.
Episode 1: World PI Week Roadshow 2025
Understanding Primary Immunodeficiencies and the Journey to Diagnosis. This episode features Dr Cecilia Poli, from Chile, Karlien Claes, from Belgium, and Zhang Jie, from China.
Episode 2: World PI Week Roadshow 2025
Advances in Treatment: Progress, Breakthroughs and Hope for the Future. This episode features Claudia Rocha, from Brazil, and Dr Thomas Kriel, from Austria.
Episode 3: World PI Week Roadshow 2025
Uniting to See the Global Challenge. This episode features Dr Cecilia Poli, from Chile, Michaela Dorcikova, from Belgium, and Otilia Stanga, from Romania.
MYPOPI SHINE: From Readiness To Reality In Expanded Newborn Screening
SHINE (Screening for Health, Intervention and Nurturing of Every Child)
In Malaysia, many newborns with treatable Primary Immunodeficiencies were diagnosed too late, resulting in severe complications. In response, MYPOPI and partners launched the SHINE national collaborative framework, which is today transforming outcomes for babies and laying the foundation for equitable access to screening at a national level.
A Silent Gap In Early Detection
In Malaysia, many newborns with conditions such as Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) are not diagnosed at birth. While the country has long implemented newborn screening for conditions like G6PD deficiency and Congenital Hypothyroidism, expanded screening for diseases such as Primary Immunodeficiencies remains limited to a few pilot centres.
As a result, many affected infants appear healthy initially but rapidly develop severe complications. Diagnosis often occurs only after irreversible damage, disability, or life threatening infections have set in. Families face prolonged uncertainty, repeated hospitalisations, and overwhelming financial and emotional burdens.
Ironically, Malaysia is not lacking in capability. The country already has ISO-accredited laboratories, trained specialists, and proven screening technologies. The real challenge lies in fragmentation: without a unified national framework, access to early detection remains inconsistent and unequal.
Building A National Framework Through SHINE
To bridge this gap, MYPOPI with the support of IPOPI, together with clinicians, researchers, industry partners, policymakers, and collaboration partners – SMA Malaysia and MRDS – launched the SHINE (Screening for Health, Intervention and Nurturing of Every Child) initiative in 2024—a national collaborative framework for Expanded Newborn Screening (ENBS).
SHINE was designed as an integrated ecosystem built on four pillars:
- Advocacy to raise awareness and drive policy engagement
- Screening to ensure standardised, high-quality testing
- Diagnosis & Treatment to connect early detection with timely care
- New Initiatives to support continuous innovation
This open, multi-stakeholder model brings together public hospitals, private laboratories, academic institutions, and patient organisations, ensuring shared ownership and scalability.
Pilot programmes have already demonstrated feasibility. Using advanced technologies, over 300 newborns have been successfully screened with reliable and timely results.
However, challenges remain. Awareness among healthcare providers and parents is still limited, screening coverage is not yet nationwide, and sustainable funding and policy adoption are critical next steps. Despite these barriers, SHINE continues to build momentum as a coordinated national effort.
Transforming Outcomes Through Early Intervention
Today the impact of SHINE is already reshaping the future of rare disease care in Malaysia.
Early detection allows babies to receive life saving treatment before symptoms begin. For example, infants diagnosed with SCID through early screening can achieve survival rates above 90% when treated promptly.
Beyond survival, SHINE reduces long-term healthcare costs by preventing intensive care admissions, lifelong disability, and repeated hospitalisations. Over a 10-year period, the initiative is projected to improve or save the lives of over 650 children, while significantly reducing the burden on families and the healthcare system. Importantly, SHINE is laying the foundation for a national, data-driven ecosystem, including patient registries, standardised care pathways, and equitable access to screening across urban and rural communities.
Contact: Bruce W D Lim, President of Persatuan Pesakit Imunodefisiensi Primer Malaysia, MYPOPI, mypopi@yahoo.com.my
The SHINE journey offers key lessons for others:
- Translate readiness into a coordinated system – Infrastructure alone is insufficient without national alignment and governance.
- Use pilot data to drive policy – Local evidence is critical to scaling programmes nationally.
- Collaborate across sectors – Sustainable impact requires partnerships between government, healthcare, industry, and patient groups.
- Ensure end-to-end care – Screening must be linked to diagnosis, treatment, and follow-up.
- Position newborn screening as a right – Early detection should be a standard of care for every child.
Driving Breakthroughs In Diagnosis and Treatment: The ESID Registry
In the past, the majority of European doctors operated in isolation, using paper records to track Primary Immunodeficiencies, leaving patients trapped in years of diagnostic odysseys due to a lack of shared data. In response, the European Society for Immunodeficiencies (ESID) built a unified, digital registry to pool clinical and genetic information from across 34 countries. Today, with data from over 30,000 patients, clinicians now achieve faster diagnoses and precision treatments, transforming once-mysterious conditions into manageable diseases.
For a child born with a Primary Immunodeficiency, or an adult who develops one later in life, the journey to health often begins with a mystery. Because many of these conditions are rare, a single doctor (or even a single hospital) may only see one case in a decade. In the past, this lack of data meant that patients faced a diagnostic odyssey, waiting years for answers while their health declined.
But today, that story is changing thanks, in part, to the ESID Registry.
What Is The ESID Registry?
Managed by the European Society for Immunodeficiencies (ESID), the registry is a massive collaborative database that pools clinical and laboratory information from patients and their disease course across Europe. Its goal is to provide a common platform for data collection to improve the diagnosis, classification, and treatment of these diseases by facilitating clinical research and bringing healthcare professionals and their knowledge together. By connecting major national registries in countries like the UK, France, and Germany with centers from 34 countries across Europe and beyond, the ESID Registry ensures that no patient’s experience is lost in a silo.
The Before: A Fragmented, Paper-Based World
In the early 1990s, medical knowledge about Primary Immunodeficiencies was fragmented. The precursor to ESID, known as the European Group for Immunodeficiencies (EGID), recognized that they needed a unified way to track these conditions.
In January 1994, the registry was officially established as part of a European Union-funded concerted action. However, the technology of the time was a major hurdle. Doctors had to fill out paper forms by hand and send them via letter or fax to a central center in Huddinge, Sweden, where the data was manually entered into a computer. By late 1994, the registry contained just 500 patients – a significant start, but only a fraction of those in need. Without a real-time, large-scale view, it was difficult to identify patterns or predict which treatments would work best, often leading to trial-and-error medicine for patients.
The After: A Digital Powerhouse
The turning point came in June 2004, when the registry transitioned to a secure, internet-based platform. This allowed doctors across Europe to enter data instantly, leading to an explosion of knowledge.
The scale of this collaboration is now staggering. A landmark 2025 report analyzed data from over 30,000 patients across 33 countries. This strength in numbers has led to:
Faster diagnosis: By identifying common clinical patterns across thousands of cases, the registry has helped clinicians recognize symptoms earlier, significantly reducing the diagnostic delay that previously averaged over four years.
Precision treatment: Researchers can now link specific genetic mutations to clinical outcomes. This helps doctors decide whether a patient needs a complex bone marrow transplant or can be managed with simpler immunoglobulin replacement therapy.
Global Research: The registry has fueled over 80 peer-reviewed publications, providing the vital backbone for clinical progress that has measurably improved survival rates and quality of life.
Lessons For The Future
The success of the ESID Registry offers a vital lesson: data sharing can be as life-saving as the medicine itself. The journey from an analogue library to a coordinated digital network was driven by a simple realization: for many rare and complex diseases, no single country has enough information to act alone.
By building a culture of trust and cross-border cooperation, the ESID Registry has significantly advanced clinical understanding of Primary Immunodeficiencies. For the global health community, the message is clear: when we break down silos and share our knowledge, we can provide millions of people with the best possible chance at a healthier life.
References:
- Kindle, G., et al. (2025). “Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients.” Journal of Human Immunity (JHI).
- ESID Registry Working Party. “Aims of the ESID Registry.” Available at: https://esid.org/working-parties/registry-working-party/
- Paganelli, R. (2026). “The early history of the ESID registry.” Journal of Human Immunity (JHI).
- ESID Registry Working Party (2007). “The European internet-based patient and research database for primary immunodeficiencies: Results 2004-06.” Clinical & Experimental Immunology.
Contact: Professor Markus Seidel, registry@esid.org
Building A New Collaborative Network To Improve The Diagnosis Of Primary Immunodeficiencies In Brazil
Brazilian patients with rare immunodeficiencies faced long diagnostic delays and geographic inequality. In response, Federal universities launched the IMUNO+ Network to integrate clinical care with advanced genomic sequencing. Today, regional healthcare gaps are closing as specialized diagnosis and expert training become accessible nationwide.
For many people living with Primary Immunodeficiencies, or Inborn Errors of Immunity (IEI), the path to diagnosis is defined by uncertainty. Recurrent infections and years of ineffective treatments often precede a correct diagnosis. For families and clinicians alike, the journey can become a frustrating search for answers.
In Brazil, this challenge is largely structural; while reference centers exist, they are concentrated in a few regions, leaving the Midwest, North, and Northeast with limited access to specialized care. To bridge this gap, a group of Brazilian federal universities and their teaching hospitals launched the IMUNO+ Network to strengthen clinical diagnosis while expanding training in immunology and genomic analysis.
Connecting Hospitals, Laboratories, and Research
Coordinated by the Federal University of Mato Grosso do Sul (UFMS), the IMUNO+ Network connects teaching hospitals across various states, including Mato Grosso and Alagoas. Rather than building new systems from scratch, the initiative leverages existing laboratories and academic expertise. By connecting these resources through a coordinated framework, the network expands access to specialized diagnostics while making efficient use of current infrastructure.
From Clinical Suspicion to Genomic Diagnosis
A key innovation is the structured diagnostic pathway that integrates multiple levels of investigation. The process begins with identifying suspected cases in pediatric and infectious disease services. When initial tests show abnormalities, patients progress to specialized investigations such as flow cytometry and molecular screening. For complex cases, the network incorporates Whole Exome Sequencing, allowing clinicians to identify specific genetic variants and better understand immune dysfunction.
Training Specialists And Strengthening Local Capacity
Beyond clinical care, the network emphasizes human resource development through elite graduate programs. By training a new generation of professionals in genomic analysis and bioinformatics, the initiative transforms university hospitals into centers of both diagnosis and knowledge generation. This collaborative model demonstrates how cooperation can turn fragmented efforts into a coordinated system capable of addressing complex rare diseases. By leveraging shared expertise, the initiative reduces regional disparities and offers patients the hope of a faster, more accurate diagnosis.
The success of this model suggests that the most sustainable way to treat complex diseases in large nations is to prioritize connectivity over construction – linking existing academic resources to create a unified diagnostic web that survives beyond isolated project cycles.
Contact: Prof. Dr. James Venturini, BS Bio, M.Sc., Ph.D. james.venturini@ufms.br
