XVIII IPOPI Global Patients Meeting

Cédric Anchisi (53 years old) has been a pilot with Air France for 28 years, following his service in the French Navy. A father to Ambre and Éloïse, he tragically lost his younger daughter in 2012 at the age of 10 due to a lung infection. This occurred just months after she had gone into remission from a lymphoma linked to Ataxia Telangiectasia (AT).
Two years earlier, Cédric co-founded ATEurope, an endowment fund with two key aims: supporting families affected by AT and providing financial aid for innovative research focused on this condition, which involves both neurodegeneration and immune deficiency.
Collaborations with esteemed institutions like the Imagine Institute and Curie Institute highlight ATEurope’s dedication and the scientific interest in AT research. ATEurope also closely partners with CEREDIH, led by Nizar Mahlaoui in Paris. They notably contribute to the French registry for Ataxia Telangiectasia (a part of the ESID registry). Being part of a global association network, ATEurope actively promotes AT research among the worldwide scientific community, engaging in discussions on broader scientific inquiries.

Maria Anebane, 40-year-old, has been managing the challenges of Common Variable Immunodeficiency (CVID) since her diagnosis at the age of 16. Despite this, she has successfully pursued her education, holding a Bac +4 degree in business administration. She is the mother of four children, including 15-year-old twins, an 11-year-old son, and a 5-year-old daughter. For the past two years, Maria has worked as the head of a nursery school. In addition to her professional commitments, she has been an active member of the Haja’s Association for 20 years and has served as the treasurer of their NMO for the past three years.

Pierre, a PID patient, has served on the board of IRIS, the French patient organisation for PID support, since 2014. His personal experience with the condition informs his work in raising awareness and supporting patients. Pierre contributes to initiatives aimed at improving understanding and the quality of life for individuals affected by Primary Immunodeficiency in France.

Tadej Avcin is Head of Department of Allergology, Rheumatology and Clinical Immunology at the Children's Hospital, University Medical Center Ljubljana (Slovenia) and Professor of Pediatrics at the University of Ljubljana, Faculty of Medicine (Slovenia). He studied medicine and pediatrics at the Faculty of Medicine, University of Ljubljana (Slovenia) and completed fellowship in pediatric rheumatology at the Hospital for Sick Children, University of Toronto (Canada). His clinical and research focuses are systemic connective tissue diseases and diseases of immune dysregulation. He has published more than 200 indexed publications and 20 book chapters on pediatric rheumatology and immunology. He is currently Secretary of the Paediatric Rheumatology European Association (PReS) and Editor-in-Chief of Pediatric Rheumatology (https://ped-rheum.biomedcentral.com/).

Alicia recently joined IPOPI as the Events and Logistics Assistant, bringing with her a Bachelor of Science in Public Health, with a specialisation in Behavioural Science.
Originally from Sweden, Alicia has always been drawn to global perspectives, participating in various international projects that have deepened her interest in meaningful causes. She has a professional background in service and administration. In her role at IPOPI, Alicia focuses on ensuring that events and logistical operations run smoothly. She enjoys coordinating information from different departments and individuals, helping to ensure that each event is well-organised from start to finish. Additionally, she supports the daily work of the organisation, keeping it aligned with IPOPI's broader mission and goals.
Alicia values collaborative environments and is dedicated to helping achieve the organisation’s objectives through careful attention to detail and a supportive approach to all logistic aspects.

Since 2021, Toya is working as an independent coach at Pediatrics Immunology. She works with patients with primary immune deficiency (PID) and their families by identifying psychosocial needs and initiating/referring to appropriate care in consultation with the immunology team.

Toya has accumulated experience in various sectors, both large and small companies, national and international. Organising, guiding, directing, coaching and mediating is her day-to-day business with a creative, empathetic and solution-oriented approach.
With these experiences and with her coaching, mediation and training education, she started as a volunteer in 2018 within the UZ Brussel Pediatrics Apple Garden Oncology.

Her strength is connecting, wanting to understand and act with that which needs attention in the NOW. Providing safety and trust, starting from an authentic empathic relationship to patient and family. Working together for psychosocial well-being, she wants to be able to make a difference for everyone.

Ms Roberta Anido de Pena has been the Founder and President of the Association for Assistance to Patients with Primary Immunodeficiency (A.A.P.I.D.P.) since 2005, and the Founder and President of the Argentine Federation of Rare Diseases (FADEPOF) since 2020. She is actively involved in international organisations, such as the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the Ibero-American Alliance for Rare Diseases (ALIBER). In 2019, she joined the Rare Disease International (RDI) Policy Committee and became the Representative of the WHO Global Collaborative Network for Rare Diseases (WHO CGN 4RD). She received an Honorary Diploma from the Honourable Senate of the Nation in 2014 for her advocacy work in the defense of human rights.

Jorey Berry is the President & CEO of the Immune Deficiency Foundation (IDF). In this role, she provides strategic leadership in partnership with the Board of Trustees and has operational responsibility for the management of staff and implementation of essential IDF programs that benefit the primary immunodeficiency (PI) community. Jorey promotes and fosters IDF’s unique mission, building relationships with key constituencies towards the goal of increasing the organization’s impact and improving outcomes. She holds a steadfast commitment to the Immune Deficiency Foundation’s vision to improve the quality of life of every person affected by primary immunodeficiency so they can live the life they choose to live, with fewer health complications. Jorey is a nonprofit executive by trade and an advocate for the immunocompromised by choice.
A results-oriented leader who places a high priority on establishing trust and stakeholder buy-in, Jorey quickly builds authentic relationships by listening to learn. She has a wide breadth of experience across multiple functional areas, including developing and implementing new operating models and leading transformation initiatives.

Jorey currently serves on the Board of Directors of the National Health Council, an organization focused on driving patient-centered health policy, providing a united voice for the 160 million people living with chronic diseases and disabilities.

Before joining IDF, Jorey was with the March of Dimes for 20 years. She held roles as Vice President of Change Management, Vice President of Organizational Effectiveness, Area Director, Regional Director of Public Affairs, and State Director of Public Affairs. Having held key roles in volunteer development, mission, operations, revenue, culture change, and internal communications, Jorey has developed a deep understanding of the nonprofit sector.
Prior to her tenure at the March of Dimes, Jorey worked in government relations for the Greater Houston Partnership, in the policy office of a former Texas Governor, and began her career as an English teacher. She earned her degree from Texas A&M University with a major in English and a minor in psychology.

Jorey resides in a small town outside of Austin and San Antonio, Texas, with her husband of 29 years and their Goldendoodle Charlie and brown tabby Scout. She and her husband have a 25-year-old son who is currently in graduate school.

Prof Dr Cornelis Boersma (1978) has a master’s degree in pharmacy and a PhD in pharmaco-epidemiology, health economics and health policy (University of Groningen). He has ~20 years of experience in healthcare from various roles such as scientific researcher, teacher, consultant and the positions he held at the pharmaceutical industry. Cornelis is an independent consultant (Health-Ecore), entrepreneur (Digital Health Link and SensUR Health).

Cornelis is Professor ‘Sustainable Health and Innovation’ at the Open University and health economist at the University of Groningen/University Medical Center Groningen. His research focuses on health-economic and epidemiological studies as well as health policy/system research. He is supervisor of over 20 PhD-students and has over 75 national and international scientific publications.

He is an active member of various committees and boards such as the NADP (Netherlands Antibiotic Development Platform), Sustainable Health Accelerator, WAAH! Accelerator and ParkinsonNL (chair of the social advisory council). In everything he does, he wants to contribute to most optimal, accessible and affordable health(care) for everyone. It is his ambition to invest – in collaboration with private and public parties – in sustainable health(care).

Fabio Candotti is Full Professor of Medicine at the University of Lausanne and Head Physician in the Division of Immunology and Allergy of the Lausanne University Hospital, in Lausanne, Switzerland. He received his MD from the University of Brescia (Italy) and completed his residencies in Pediatrics and Pediatric Allergy and Immunology at the Universities of Pavia (Italy), and Brescia (Italy), before joining the National Institutes of Health in the USA as a postdoc in the field of gene therapy.

From 1998 to 2014, Prof Candotti headed the Disorders of Immunity Section of the National Human Genome Research Institute of NIH where he focused his clinical and research activities on primary immunodeficiencies (PIDs), with particular interest on the Wiskott-Aldrich syndrome and adenosine deaminase deficiency. In 2014, he was recruited by the University Hospital of Lausanne, where he currently heads the clinical Unit on PIDs of the Division of Immunology and Allergy.

Prof Candotti has published 190 indexed articls and 60 reviews and book chapters on PIDs and gene therapy. He currently serves as President of the European Society for Immunodeficiency, Associate Editor of Pediatric Allergy and Immunology, and Specialty Chief Editor of the Primary Immunodeficiencies section of Frontiers.

Silvia is a 29-year-old girl graduate in Public Relations and Corporate Communication at IULM University in Milan. Since 2017, she have worked as Head of Communication and Public Relations for two different nonprofit organizations: AIP O.d.V., which operates in the social-health field, and Ensemble Amadeus, a cultural association. In 2020, Silvia graduated from the Master program in Hospitality and Tourism Management at IULM University, after which she joined the team at the 5-star luxury Park Hyatt Milano hotel, working in the Revenue & Reservation department. In 2020, she also worked as a research assistant on several academic research projects related to tourism and new technologies applied to hospitality at IULM University. Currently, in addition to her role as Head of Communication for the AIP O.d.V. Association, Silvia also is the Coordinator of the Master program in International Tourism and Hospitality at IULM University in Milan.

Antonio Condino Neto, MD, PhD, FAAAAI, FCIS, is a distinguished physician and immunologist with a strong academic background, holding a PhD in Pharmacology and a Master's in Immunology. Dr Condino Neto has held significant positions at prestigious institutions, including the University of São Paulo and the State University of Campinas Medical School. His commitment to the field of immunology is evident through his leadership roles in medical societies, such as the Latin American Society of Primary Immunodeficiencies. With a remarkable portfolio of over 200 publications and numerous research projects, Dr. Condino Neto has made substantial contributions to the advancement of immunology.

Dr Dalm is a renowned physician and researcher specialising in clinical immunology and primary immunodeficiency (PID) at Erasmus University Medical Center Rotterdam. With over 10 years of experience, he focuses on identifying genetic defects underlying PIDs to develop targeted treatments. He also investigates underreported complications in PID, including skin, endocrine, neurodevelopmental, fertility, and psychiatric disorders. His recent interest lies in understanding the link between PIDs and neuropsychiatric complications. Dr. Dalm envisions leveraging genetic defects to create better treatments for PID patients.

Ms Mary Louise Daly is an advanced practice nurse (APN) specializing in rheumatology. She works at the University Hospital Basel and the University Children's Hospital (UKBB) in Switzerland. With over ten years of experience, Mary Louise supports adolescent and young adult patients during their transition from pediatric to adult services. She is also involved in caring for adult rheumatology patients at the University Hospital Basel, with a special interest in fatigue management. Mary Louise is an active member of INGID and has many years' experiences on the INGID board. She has contributed to the development of a German speaking immunology nurse network. Her expertise, combined with her academic background in medical anthropology and analytical chemistry, makes her an asset to the healthcare community.

Ms Liz Davis
Elizabeth ‘Liz’ Davis is a dedicated Paediatric Nurse with over 20 years of experience, committed to engaging young adults in their healthcare and fostering self-care both within and beyond the family context. She recognises that this age group often experiences poorer health outcomes due to disengagement, and she aims to empower them to take an active role in their care.
Liz's extensive background includes work in Paediatric Intensive Care, Adolescent Units, and School Nursing, as well as Paediatric Vaccine Research. Since 2014, she has specialised in Paediatric Infectious Diseases and Immunology, where she oversees SCIg home training and acts as the main contact for families dealing with Primary Immune Deficiencies and Hereditary Angioedema. In addition, Ms Davis serves as a TB nurse and is a certified Yoga teacher and Sports Masseuse, learning invaluable lessons from the young people she interacts with.
By leveraging her knowledge of adolescent development and effective communication techniques, Liz focuses on addressing the emotional and medical needs of teenagers, ensuring they receive optimal health outcomes while supporting their families throughout the process.

Carolyn Dews is an accomplished leader and strategic visionary with over two decades of experience in business management, leadership, and organizational development. As the CEO of the Immune Deficiencies Foundation Australia (IDFA), Carolyn has been instrumental in guiding the organization through significant transformations, expanding its reach, and ensuring its financial stability. Under her leadership, IDFA has become a community for over 2,500 members nationwide, focusing on education, advocacy, and support for those living with immune deficiencies.

A passionate advocate for community engagement and social impact, Carolyn has served on numerous boards and committees, including Business Illawarra’s Regional Advisory Council and the Australian Patient Advocacy Alliance. Carolyn holds a Master of Business Administration (MBA) and a Master of Public Health (MPH) from the University of Wollongong, along with a Company Directors Course certification from the Australian Institute of Company Directors.

Carolyn works collaboratively with other organizations in the Rare Disease sector both in Australia and internationally, including as the representative of IDFA at IPOPI

Ms Drabwell, a board member since 2008, has played a pivotal role in IPOPI's growth. She served as President from 2008 to 2018 and continues her contributions as a board member. Jose's efforts have raised global awareness about primary immunodeficiencies (PIDs), advocating for optimal treatment and collaborating with stakeholders worldwide. Her initiatives led to the "Principles of Care" publication, shaping PID forums in the EU parliament. Under her guidance, the Bob le Bien Asian Development program launched multiple national member organizations in Asia.

Jose's personal experience with CVID motivated her to expedite accurate diagnoses and prevent organ damage for others. In April 2018, she was appointed Officer of the Order of Orange-Nassau in the Netherlands for her remarkable contributions. This prestigious award recognized her exceptional dedication to the PID community. She expressed her joy and hope that her work inspires patients to engage actively in their health. The Mayor of Rotterdam, Ahmed Aboutaleb, presented the award, acknowledging Jose's selfless commitment to benefiting patients worldwide.

Albert Farrugia has a career spanning forty-five years in academia, government and the private sector. His area of engagement and expertise has included the field of biotherapies derived from substances of human origin, with a particular focus on plasma-derived therapies. He is a global authority in this area, and has published widely in the peer-reviewed medical and scientific literature, with over 150 works listed in PubMed. He is an adjunct Professor in the Faculty of Health and Medical Sciences in the University of Western Australia. He is also a member of the global community of people with rare, chronic disorders, in which context he serves diverse patient organisations as a pro-bono adviser on their medical and scientific boards. He is an amateur artist, writes Haiku poetry and is a recognised philatelist and postal historian.

Miriam Ferreira joined IPOPI in 2021 and currently serves as IPOPI´s NMO Programmes Officer. In this role, she focuses on engaging and supporting the growth of IPOPI´s National Member Organisations (NMOs) worldwide. She collaborates closely with IPOPI's Senior Manager for Health Policy and Advocacy to shape impactful health policies and awareness campaigns. Additionally, she takes an active role in the organisation of IPOPI’s educational and skill-building meetings at the international, regional, and national levels, ensuring that knowledge and expertise are shared effectively within the community.

Prior to joining IPOPI, she worked at a law firm in Lisbon, Portugal. Miriam holds a bachelor's degree in Law from institutions in Portugal and Macau, bringing a strong legal background to her role. She is deeply committed to working closely with IPOPI's National Member Organisations (NMOs), fostering their development, and ensuring their success.

Nicolas Garcelon has an engineer degree in agronomy (2000) and a PhD in public health medical informatics (2017). Since 2012, he directs the data science platform of the Imagine Institute. His research is about medical informatics and artificial intelligence for rare diseases. He developed Dr. Warehouse®, a hospital data warehouse that allows physicians to visualize, mine and analyze patient data intuitively and efficiently. He co-created in 2017 the startup codoc.

Whitney Ayoub Goulstone is currently the Executive Director for Immunity Canada, formerly the Canadian Immunodeficiencies Patient Organization. A rare disease patient herself, she has been working in advocacy and health for over a decade.

Whitney is active on various boards and committees, with present work including: Canada’s Drug Agency’s National Advisory Committee on Newborn Screening, the Network for Rare Blood Disorders Organization and the Patient Network for APEC Business Ethics for SMEs.

Whitney currently lives in Victoria, British Columbia with her two teenage children and her numerous rescue animals where she enjoys the outdoors as much as possible.

Rafael Graça currently serves as the Communications Manager at IPOPI - International Patient Organisation for Primary Immunodeficiencies since January 2024.

In his role at IPOPI, Rafael is responsible for creating, implementing, and managing strategic communication plans. He handles both internal and external communications, oversees the development and management of IPOPI's website and manages IPOPI's social media presence. Rafael also supervises all publications of the organization and the design and production of printed materials. He ensures the creation of educational and awareness videos, including mini-documentaries and testimonials. Additionally, he promotes IPOPI's online and in-person events. Rafael also captures, edits videos and photographs and manages the social media pages for Screen4Rare and PlasmaUsers, enhancing IPOPI's visibility and engagement. Rafael holds a bachelor's degree in Social Communication from Escola Superior de Educação de Coimbra and a Master's degree in Communication, Culture, and Information Technologies from ISCTE - Instituto Universitário de Lisboa.

Rafael's educational background includes courses in theatre, positive communication, neuromanagement, business communication, and digital health.

Prof Haddad is a clinician scientist in paediatric immunology, Professor of Paediatrics at the University of Montreal. His clinical research focuses on primary immune deficiency. He is the President of the Clinical Immunology Society, and he is one of the three PI of the Primary Immune Deficiency Treatment Consortium, an NIH-funded consortium of 47 North American Centres.

Fabian Hauck, MD, PhD, is a Professor of Paediatrics at the Dr. von Hauner Children's Hospital in Munich, Germany. He leads the Division of Pediatric Immunology and Rheumatology, focusing on inborn errors of immunity (IEI). Dr Hauck is also a member of the European Society for Immunodeficiencies (ESID), the vice president of the German Speaking Working Party for Paediatric Immunology and the Spokesperson of the Clinical Working Party of the German Society for Immunology.

Dr Julia Hews-Girard is an assistant Professor at the Faculty of Nursing, University of Calgary, and a memebr of the Alberta Children's Hospital Research institute. Julia earned her PhD in Nursing from Queen’s University with a focus on clinical epidemiology, population-level analysis and the health of all women and girls with inherited bleeding disorders. Her post-doctoral training focused on tool validation, measurement, co-design approaches and implementation/evaluation of digital mental health. While she continues to work to increase access to care for women and girls, her focus has expanded to include mental health of emerging adults. Dr. Hews-Girard is a member of the OCEC EDI accelerator and is a board member and executive member of the INGID research committee.

Steven M. Holland, M.D., is the Director of the Division of Intramural Research (DIR) of the National Institute of Allergy and Infectious Diseases (NIAID), the National Institutes of Health (NIH). Before becoming Director, DIR, NIAID, Dr Holland served NIAID as Chief of the Laboratory of Clinical Infectious Diseases (LCID). Dr Holland continues to lead a program in NIAID as chief of its Immunopathogenesis Section in the Laboratory of Clinical Immunology and Microbiology.

Dr Holland’s research areas of special interest have included genetic conditions predisposing people to mycobacterial infections as well as chronic granulomatous disease, Job's syndrome (autosomal dominant STAT3 deficiency) and Leukocyte adhesion deficiency. More recently, he has been interested in genetic conditions associated with severe coccidioidomycosis and acquired forms of anticytokine autoimmunity predisposing to opportunistic infections. Dr Holland is an NIH Distinguished Investigator and a member of the National Academy of Medicine. He received his B.A. degree from St. John's College in Annapolis, Maryland, in 1979 and his M.D. degree from the Johns Hopkins University School of Medicine in 1983. He remained at Johns Hopkins for his internal medicine residency, chief residency, and fellowship in infectious diseases before coming to NIAID in 1989 “for a short stint” to study the molecular biology of HIV. In 1991 he moved to the Laboratory of Host Defenses, NIAID, under John Gallin to study phagocytes and phagocyte immunodeficiencies. In 2004, he became chief of LCID, NIAID, a position he held until his appointment as Director, DIR in July 2016.

Emi Homareda is a board member of Tsubasa-no-kai, the Japanese patients organization since 2020.

As the mother of two sons who are “CGD survivor”, she is especially interested in support for PID children and their families. In the summer of 2024, with other board members, she planned and held a fun event for PID children for the first time in 33 years in the history of the organization. The event was successfully done and was the chance to welcome potential new members. She has met some CGD children and their families at hospitals until her sons received bone marrow transplant. This experience encouraged her to commit the advocacy for PID patients.

Mohammad Iqbal Hossain is a Chairman of PIDPSB (NMO-Bangladesh). He is also a seasoned content creator with over five years of experience in digital storytelling, multimedia production, and strategic content development. As the founder of Six Seasons Multimedia with near to Million Subscriber on YouTube, Iqbal specializes in crafting compelling narratives and engaging visuals that resonate with diverse audiences. His work spans across various platforms, including social media, blogs, and video channels, where he has successfully increased audience engagement and brand visibility. Iqbal’s innovative approach has earned him recognition in the entertainment sector of Bangladesh.

Blanca Imbert is the mother of 2 talented young people, ages 22 and 18. She likes to work with community issues on health and education issues, which is why for 7 years he has chaired a Patients Alliance called APIP where his vision is to ensure that patients and family members with a genetic condition called Primary Immunodeficiency receive a diagnosis. early, educate themselves about their condition, feel supported and can take control of it. Performing this role allows you to get involved in the search for opportunities to improve quality of life and access to better and faster treatments.

In the professional field, she works as manager of an advertising company, where she specializes in strategic media planning for the company's brands. She also recently acquired a Real Estate Broker's license, a profession that caught her attention because of how rewarding it is to help a person or family have their own home. In her free time, she enjoys dancing salsa, taking Pilates classes, and doing Zumba.

David is the Programs Manager for Immunity Canada. He started working on the Walk for Immunodeficiency, a national public awareness and fundraising campaign in 2023. His background is in program design, implementation and evaluation, as well as developing fundraising strategies for not-for-profits. David enjoys travel, time with friends and family, music and the great outdoors with his dog by his side.

Dr Nizar Mahlaoui is a paediatrician specialising in immuno-hematology at Necker-Enfants
Malades University Hospital in Paris, France. He manages the French National Reference Center
for Children and Adults with Primary Immune Deficiencies. He trained under the supervision of Prof Alain Fischer and Jean-Laurent Casanova, giants in the field of PID. He has a particular interest in epidemiology of PID and natural history studies of PIDs. He has published extensively and holds a Ph.D. in Epidemiology of Rare Diseases and Public Health. Dr Mahlaoui is actively involved in various patient organisations, as the Chair of the Medical Advisory Panel of IPOPI and has received accolades for his contributions to patient empowerment and support. Dr Mahlaoui is the founder of the Adolescent and Young Adults Transition Care Program "La Suite-Necker" which has been recognised for its innovative approach (Including the Galien Awardin 2019).

Lúcia has recently joined the International Patient Organisation for Primary Immunodeficiencies (IPOPI) as the new Medical Affairs Project Manager. She holds a PhD in Pharmaceutical Sciences from the University of Liège, Belgium, with a specialization in neglected parasitic diseases. As a pharmacist, her career involved direct contact with patients at a community level, both in a pharmacy and hospital setting, before evolving recently to awareness and advocacy for patients with primary immunodeficiencies. In this position at IPOPI, Lúcia is in close contact with a global network of medical experts in the field of primary immunodeficiency (PID), and she provides the patient perspective on relevant scientific research projects. Additional responsibilities at IPOPI consist of monitoring the scientific and clinical developments affecting PID patient care, overseeing clinical care educational programmes and supporting scientific IPOPI events.

Dr Cybel Mehawej, with a PhD in Genetics from Paris Descartes University, trained in Immunogenetics at Boston Children’s Hospital, Harvard Medical School. She aided in implementing TREC newborn screening in Lebanon in 2017. She joined the Lebanese American University in 2020, and focuses on exploring genetic bases of inborn errors of immunity, contributing to discovering a new form of SCID. With over 40 peer-reviewed articles, she earned awards like the Excellence Award (France 2012), Resource-limited country award (ASHG Washington 2023), and Women in Science young talents grant.

Benedicte Neven is professor of pediatric, working in the pediatric immune-hematology Unit of Necker Children hospital in Paris where she coordinates the activity of bone marrow transplantation. Her clinical and research activities are dedicated to patients with primary immune deficiencies from diagnosis to therapy including targeted treatment when available, bone marrow transplantation and cellular therapy. She is currently the chair of the IEWP of EBMT.

Ms Pergent is currently the President of IPOPI and was elected in October 2018 after serving eight years as IPOPI Vice-President. She has wide experience in patient advocacy and is particularly committed to raising awareness on PIDs as rare conditions, improving access to early and accurate diagnosis and personalised treatment, encouraging, and supporting the creation of new patient organisations, especially committed to low- and middle-income countries. She has special interest in the benefit rare diseases can obtain with the progress of medical and social sciences, technology, and digitalisation.

As a patient advocate, Martine Pergent actively works so that patients are not only heard but listened to when it comes to decisions that could or will impact their lives. Therefore, she sees patients’ representatives as stakeholders whose experience and knowledge can enrich other stakeholders’ perspectives, in joined efforts to cooperating so to achieve the ultimate common goal: the best possible life for patients with rare diseases.

Prof Sánchez-Ramón is an Associate Professor of Immunology at the Complutense University of Madrid School of Medicine, also serving as the Head of the Immunology Department at the Hospital Universitario Clínico San Carlos. Her research is centred on Neuroimmunology and Immunoregulation. Additionally, she has been elected as the President-Elect of the Spanish Society of Immunology, demonstrating their commitment to advancing immunological research and healthcare practices in Spain.

Somayeh Khojasteh, 42 years old from Iran, holds a master's degree in health education and a master's degree in environmental engineering. She is involved in the patients' association and is a photographer.

During an immunology exam, Somayeh experienced severe coughing that caused chest pain. These coughing episodes persisted throughout the semester. After the exam, her professor inquired about the cause of her cough. Somayeh explained that she had been ill every day since childhood, frequently visiting doctors and using medications and injections, yet never fully recovering. She shared that her nights were filled with pain, preventing her from sleeping, and her mornings started with heartache and vomiting.
Before her disease was diagnosed, Somayeh’s ears got infected and needed surgery. Her hearing is low and today she uses aids for this. Her lungs also got infected she underwent surgery for this as well as her tonsils.

Her professor suggested a blood test, which Somayeh initially hesitated to take due to the pain from numerous previous tests. However, upon her professor's insistence, she went to a research center for the blood test, which led to a referral to an immunologist. The immunologist diagnosed her condition and prescribed monthly injections. Initially unaware of the lifelong requirement of these injections, Somayeh later discovered their necessity but chose not to tell her parents to avoid causing them further distress. Her mother had spent countless nights by her side, comforting her through the coughing fits, and Somayeh felt deep sadness for the sacrifices her mother made.
Somayeh began painting her used medicine bottles, turning them into keepsakes. This creative endeavor led her to consider the absence of a support group for others with similar conditions. She decided to establish an association for immunodeficiency patients. The first to support and encourage her were Dr Agha Mohammadi and Dr Nima Rezaei in Tehran. Upon returning to Mashhad, Dr Hamid Ahanchian supported her efforts. After several years of persistent work with government offices, she successfully founded the association in 2013.

The association now supports about 300 immunodeficiency patients in Mashhad, both children and adults. Somayeh engages in social work, organizing financial aid through a Telegram group where donations are collected for medications. These funds are directed to pharmacies, and occasionally, benefactors cover tuition fees for members. She shares her experiences of living with the illness to help reduce stress among her peers and provides guidance on genetic testing and marriage.
In 2012, she was honored by Dr Agha Mohammadi and Dr Nima Rezaei. In 2023, she received recognition and a statue from Darman Ara Pharmaceutical Company, which produces medication for patients like her. She continues to use their medication. In 2024, during the World Immunodeficiency Patient Week, at a conference organized by Dr Nima Rezaei, she was officially introduced as the president of the Iran Safety Association and was presented with a statue.

Mr Lim is the Chairperson and co-founder of the Malaysian Patients’ Organisation for Primary Immunodeficiencies (MYPOPI), and the Vice-President of IPOPI. He is also the owner of Modern Engineering Solutions Sdn. Bhd. in Malaysia. Bruce's personal connection to primary immunodeficiencies (PID), through his son who is affected with X-linked Agammaglobulinaemia, led him to establish MYPOPI in 2014. Since the start of MYPOPI, he has actively promoted PID awareness in Malaysia through media engagements, roadshows, and collaborations with medical associations. His commitment to the cause resulted in his roles within IPOPI, where he serves as a Vice-President, and previously as Treasurer.

Henrik Oehme served as Vice President for the Middle East, Indian Subcontinent, Africa, and France at Biotest from October 2015 to March 2022. In March 2022, he became the Managing Director of Plasma Service Europe GmbH, a subsidiary of Biotest. Plasma Service Europe operates 39 plasma centers, including subsidiaries in Hungary (Plasmaszolgalat) and the Czech Republic (Cara Plasma).

Ms Cynthia Olotch is a Projects, Energy, and Infrastructure lawyer at IKM Advocates and the Chairperson and Founder of PIDs Kenya, a registered NGO that supports individuals and families affected by primary immunodeficiencies in Kenya. She is also a rising star in her field, having been ranked IFLR1000, and is a writer for the World Bank's Public Private Partnerships blog.

Cecilia Poli MD. PhD. is a physician scientist. She obtained her PhD in Immunology at Baylor College of Medicine under the direction of Dr. Jordan Orange, and she now works as a Pediatric Immunologist & Rheumatologist and in Chile. Her research is focused on understanding the genetic defects and molecular mechanisms underlying PIDD with special interest in immune dysregulation and autoinflammatory disorders. She directs the Translational Immunology Program at the Faculty of Medicine Clínica Alemana-Universidad del Desarrollo in Santiago and severs as the current Secretary for LASID.

Johan Prevot has worked in the healthcare sector for 20 years in the field of patient advocacy and health policy. Mr Prevot is the Executive Director of the International Patient Organisation for Primary Immunodeficiencies (IPOPI). As such he is responsible for the management and growth of IPOPI’s global activities, awareness, and advocacy campaigns as well as the strengthening of IPOPI’s national member organisations network. Johan Prevot has throughout his career been an advocate for improving patient access to early diagnosis and treatment in the field of rare diseases including primary immunodeficiencies, haemophilia and alpha 1 antitrypsin deficiency among others. Access to diagnosis and treatment for primary immunodeficiencies and other rare plasma related disorders varies greatly from country to country and many people living with these conditions in developing countries still nowadays cannot access their life enhancing and/or lifesaving therapies. Mr Prevot has and continues to work closely with other stakeholder organisations sharing common objectives and priorities

Jacques Rivière is a passionate pediatric immunologist dedicated to rare diseases and the humanization of medicine. He completed his pediatric training in 2017 at Vall d'Hebron Hospital, at the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies in Barcelona. In 2016, he had the opportunity to further his training abroad, working with Dr Elie Haddad at a renowned immunology center in Montréal, Canada, specializing in clinical immunology and rheumatology.

Following the completion of his residency, Dr. Rivière pursued a Master's degree in Pediatric Infectology and Immunology at the University of Barcelona. Since July 2017, he has been an integral part of Dr Soler's team, in the Pediatric Infectious Diseases and Immunodeficiencies Unit at Vall d'Hebron Hospital where he has the privilege of attending for individuals with immune deficiencies and their families.

Currently, in addition to providing care for patients with Inborn Errors of Immunity, Dr. Rivière serves as the clinical coordinator of the Advanced Immunlogy Testing Laboratory within the Infection and Immunity in Pediatric Patients Research Group at Vall d'Hebron Research Institute. Within the group, he also leads various projects, including PIDCAP, which focuses on implementing computational tools for immunodeficiency screening in Primary Care. Driven by his interest in leveraging technology for patients and professionals convenience, he currently serves as the ERN-RITA clinical representative for the European Clinical Patient Management System (CPMS) platform. Through this role, he aims to ensure access to expert guidance and support for patients across Europe, regardless of their location or proximity to specialized centers. Since June 2023, he serves as the Catalan Hospitals Health Informatics Vall d’Hebron Coordinator, enhancing the efficiency and effectiveness of electronic health records (EHRs) for both patients and professionals.

Prof Seidel is a Professor of Translational Pediatric Hematology and Immunology at the Medical University of Graz, Austria. In October 2022 he was elected as chairperson of the ESID registry with 25.000 patients with inborn errors of immunity for his aims to facilitate clinical research in this important field of rare diseases. Furthermore, he heads the Styrian Children’s Cancer Research Unit, an infrastructural project at the Medical University of Graz. His current own clinical focus and research interests are inborn errors of immunity with immune dysregulation and cancer predisposition, and he is leading a multicenter, prospective registry and biomarker study for severe immune cytopenias and heading the outpatient clinic for pediatric hematology-oncology with stem cell transplantation in Graz.

Dr Seymour has served since 2016 on the Board of Trustees for the International Patient Organisation for Primary Immunodeficiencies (IPOPI). He served on the Board of Trustees for the Immune Deficiency Foundation (IDF) in the United States from 2006-2022, serving as Chair from 2012-2021. Dr Seymour has been a family therapist for over 45 years, with a focus on children, adolescents, and their families. Much of his clinical practice, university teaching, clinical supervision, and research has focused on resilience and coping with chronic illnesses.

He is an Emeritus Professor and Distinguished Faculty Scholar at Minnesota State University, Mankato, where he taught for almost 20 years. He continued his clinical practice after retirement from the University, working in a local outpatient mental health clinic. His previous professional experiences included several clinical, supervision, and administrative positions in a variety of healthcare settings and private practice.

Dr Shaw currently serves as Chair of the Board of Trustees of the Immune Deficiency Foundation (IDF). She is the solo mom to a recent college graduate with a primary immunodeficiency and became an active IDF volunteer in 2012 through advocacy and fundraising. With Maddie’s Herd, a grassroots youth advocacy group founded by her daughter during 8th grade, she is dedicated to amplifying the voice of the rare disease community, especially PI. Shaw has served on the IDF Board of Trustees since 2018. She has also served as spokesperson for the Up The Antibodies public safety awareness campaign and worked closely with MadeVisible and the National Organization of Rare Disorders (NORD).
Shaw is a business growth strategist for industries spanning financial services to health care, and is dedicated to enriching the customer experience, streamlining process improvements, and developing innovations that enhance ROI. Currently, she leads the client engagement strategy for Equitable.
Shaw also serves as immediate past Chair of the Board of SCORE and is a member of CHIEF. She earned an MBA from Western Connecticut State University and Doctorate in Organizational Leadership through Adler University. Additionally, Shaw has spent time as a youth soccer coach and Girl Scout cookie mom while holding a patent for 401kSecure, and (very) briefly, a world record.

Pere Soler-Palacin is a paediatric immunologist, head of the Paediatric Infectious Diseases and Immunodeficiencies Unit at Hospital Universitari Vall d’Hebron,Barcelona, Catalonia, Spain. He is the Director of the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies (Barcelona) and the local coordinator of the European Reference Network for Immunodeficiencies (ERN-RITA) site in Barcelona.
He has participated to date in 35 national and international projects, and authors more than 200 publications in journals indexed with an h-index of 35, and more than 200 communications in national and international scientific meetings.

Leire Solís is Senior Manager for Health Policy and Advocacy at the International Patient Organisation for Primary Immunodeficiencies (IPOPI) since 2014. In this capacity, she is involved in advocacy programmes at international, European and national level to ensure that the patient’s voice is heard. Additional responsibilities at IPOPI consist on monitoring the health policy environment affecting the PID community globally and support IPOPI’s national patient groups in their advocacy efforts. Leire is IPOPI’s alternate member to European Medicines Agency Patient and Consumer Working Party (PCWP) and a member at the Rare Disease International Advocacy Committee. Prior to joining IPOPI, Leire worked for a European public affairs consultancy in Brussels and was in charge of planning and executing several policy campaigns for pharmaceutical companies, patient groups and scientific associations. Leire holds a bachelor’s degree in Sociology, a Master’s in International Affairs and is a EUPATI Fellow on medicines research and development.

Before her present involvement with patient rights and advocacy, she was a graduate of Political Science and Communication from the West University of Timisoara and she had a marketing manager position in a local company. In 2012, her daughter Maia (now 14 years old) was diagnosed with a primary immune deficiency. Since then, she started reading a lot about PIDs, found out about the existence of IPOPI and ARPID and got more and more involved with the Romanian patient organization. After a series of life altering eventsfinding out about her daughter’s illness and the death of her partner in 2013- learning as much as she could about her daughter’s condition and about the possibilities for treatment and a life as close as possible to normal for her daughter became her main focus. She studied to become a medical nurse. She researched legal aspects related to access to treatment and to different means of social support for patients and their caretakers, trying to find ways of communication to institutions and decision makers, trying to find the best strategies adapted to the local situations in Romania.

In 2015, she started volunteering for ARPID, offering legal advice for patients, fundraising for projects, being a patient advocate in different meetings, translating patient information leaflets. In 2017, she became the vice-chair of ARPID and after the elections in 2019, she became the chair of the organization. After a very serious immunoglobulin crisis in 2017-2018, the organization was deeply involved in lobbying for a solution to the crisis and for finding ways of insuring access to this treatment for all the patients who need it. As a result of these struggles, SCIG treatment was introduced for the first time in Romania. In the last years, she was intensely involved in a campaign for creating the legislative and practical infrastructure for plasma collection in Romania, campaign that it is still ongoing. She was co-opted as an IPOPI Board Member in 2020 and elected as Board Member and treasurer in 2022.

Despite all the difficulties and challenges this new life brought, after many years of corporate work, she feels like now she has finally found her true self as being one of the voices for the PID patients. She sees her work at IPOPI and ARPID as being intensely personal, in relation to her own family situation but also in relation to all the PIDs patients and all the parents of PIDs kids. Also, she sees her work as being part of the broader frame of the importance of access to health care for all patients as an essential human right.

After her first pregnancy, Sian began experiencing chronic ear and sinus infections as well as bouts of pneumonia. After a difficult second pregnancy, Sian was diagnosed with CVID.
Determined to not let the diagnosis and the illness lead her life, she sought as much information as possible to rediscover her energy, positivity and herself, and by doing so, lives an active and full life.
For the past 8 years she has been actively involved in the Dutch Patient Organisation for people with a PID (Stichting voor Afweerstoornissen), of which the past 6 years she has been the secretary of the organisation.

Besides her work for the Dutch Patient Organisation, Sian works fulltime for KLM, is married, and has two children, age 18 and 13. She loves to travel, go out for dinner, swim and watch Formula 1.

Felipe Suarez, MD. PhD, has trained in clinical immunology and hematology in Paris. He currently works in the department of adult hematology of Necker-Enfants Malades (Prof. Olivier Hermine), Paris University where he chairs the adult stem cell transplantation program. Beside general hematology, his main clinical and research interests are primary immune deficiencies associated malignancies and developing stem cell transplantation approaches for adult patients with PID.

Prof Martin van Hagen is an internist-immunologist at the Department of Internal Medicine. He serves as the Head of the Clinical Immunology Unit at Erasmus Medical Center in Rotterdam and is also a staff member at the Rotterdam Eye Hospital. Additionally, he holds the position of Visiting Professor at Chulalongkorn University in Bangkok, Thailand. He is the Vice-Chair of IPOPI’s Medical Advisory Panel. Prof van Hagen is an expert in diagnosing and treating patients with immune-mediated diseases. His department takes care for approximately 4000 patients with well-defined rare immune diseases.

José Verstegen, 62 years old and married. Together with her husband, she has four adult children. Her life took an unexpected turn when, at the age of 38, she was diagnosed with CVID (Common Variable Immune Deficiency). This diagnosis came after her youngest daughter, then three years old, became seriously ill. After thorough testing, she was diagnosed with CVID. Because of her condition, the doctors decided to test the entire family. To their shock, not only did her youngest daughter have CVID, but two of José’s other children and herself also tested positive for the condition.
This moment changed a lot in her life. While the diagnosis provided relief, finally explaining why José had often felt unwell, it also brought many uncertainties and questions. Fortunately, her doctor immediately referred her to the patient organization SAS (Stichting voor Afweerstoornissen), where José found recognition and support. Connecting with others living with PID (Primary Immune Deficiency) gave her the comfort of knowing she wasn’t alone.
After some time, José decided not only to participate but also to contribute actively to the community. Twenty years ago, she joined the board of SAS. It felt right to work alongside others in advocating for a better future for people with PID. Ensuring timely diagnosis, the right treatments, and continued research for a cure have become her main goals. But what matters most to her is the mutual support they provide. The understanding and encouragement within the PID community are invaluable to José.
Each of her children has found their own way in life despite the challenges of living with PID, but the journey hasn’t been easy. Every stage of life has brought new obstacles, and it was hard at times to witness their struggles. It has been confronting for José as well. Yet, these challenges have motivated her to share her experiences with others and remind them that they are not alone.
José want her story and her efforts to help others find strength in living with PID. It is so important to know that support is always available, that you don’t have to face it alone, and that there are others who understand what you are going through. This is what drives José, and it is what she has dedicated herself to for the past twenty years at SAS.

Sergio is a 25-year-old with Bruton’s Agammaglobulinemia. He have been collaborating with the AIP O.d.V. Association for years and is currently a member of the Board of Directors. He hold a Master’s degree in "Management for Social Economy" from the University of Bologna, which allowed him to study the nonprofit sector and delve into topics very useful for association life. His relationship with the Association began years ago thanks to his mother: her dedication and determination have been an inspiration to Sergio. In recent years, he has had the opportunity to take part in some national and international events, such as IPOPI’s IPIC in Madrid. Sergio is happy to continue attending these events, where he can connect with distant realities that share similar needs, and participate in meetings where experiences in the field of primary immunodeficiencies can be shared.