Review

. 2025 Jun 17:16:1596971.

doi: 10.3389/fimmu.2025.1596971. eCollection 2025.

Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years

Lúcia Mamede¹, Roser Cantenys Sabà^{2

3}, Samya Van Coillie¹, Johan Prévot¹, Silvia Sánchez-Ramón⁴, Cecilia Poli^{5

6

7}, Anne Barasa⁸, Björn W Schuller^{9

10

11}, Ayal Hendel¹², Nicolas Garcelon¹³, Cornelis Boersma^{14

15

16}, Pamela Lee¹⁷, Claire Booth^{18

19}, Luigi D Notarangelo²⁰, Jose Drabwell¹, Nicholas L Rider²¹, Frank J T Staal^{22

23}, Siobhan O Burns^{24

25}, Martin Van Hagen^{26

27

28}, Martine Pergent¹, Jacques G Rivière^{29

30

31

32}, Nizar Mahlaoui^{1

33

34}

Affiliations

¹ International Patient Organisation for Primary Immunodeficiencies (IPOPI)I, Brussels, Belgium.
² Catalan Health Service, Barcelona, Spain.
³ Digitalization for the Sustainability of the Healthcare System (DS3) research group - Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Barcelona, Spain.
⁴ Department of Clinical Immunology, Instituto de Medicina de Laboratorio (IML) and Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
⁵ Facultad de Medicina Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.
⁶ Programa de Inmunogenética e Inmunología Traslacional, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Santiago, Chile.
⁷ Unidad de Inmunología y Reumatología, Hospital Roberto del Río, Santiago, Chile.
⁸ Immunology Unit, Department of Human Pathology, University of Nairobi, Nairobi, Kenya.
⁹ CHI - the Chair of Health Informatics, Technical University of Munich University Hospital, Munich, Germany.
¹⁰ Munich Data Science Institute (MDSI), München, Germany.
¹¹ the Munich Center for Machine Learning (MCML), München, Germany.
¹² Institute of Nanotechnology and Advanced Materials, The Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.
¹³ Université de Paris, Imagine Institute, Data Science Platform, INSERM UMR 1163, Paris, France.
¹⁴ Health-Ecore B.V., Zeist, Netherlands.
¹⁵ Unit of Global Health, Department of Health Sciences, University Medical Center Groningen (UMCG), University of Groningen, Groningen, Netherlands.
¹⁶ Department of Management Sciences, Open University, Heerlen, Netherlands.
¹⁷ Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
¹⁸ Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital, London, United Kingdom.
¹⁹ Infection, Immunity and Inflammation Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
²⁰ Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
²¹ Department of Health Systems and Implementation Science, Virginia Tech Carilion School of Medicine, Roanoke, VA, United States.
²² The Department of Pediatrics, Pediatric Stem Cell Transplantation Program, Willem-Alexander Children's Hospital, Leiden, Netherlands.
²³ The Department of Immunology, Leiden University Medical Center, Leiden, Netherlands.
²⁴ Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
²⁵ Institute of Immunity and Transplantation, University College London, London, United Kingdom.
²⁶ Departments of Internal Medicine, Division of Allergy & Clinical Immunology, Immunology, Erasmus University Medical Center Rotterdam, Rotterdam, Netherlands.
²⁷ Department of Microbiology, Chulalongkorn University, Bangkok, Thailand.
²⁸ Department of Internal Medicine, Clinical Immunology, Cipto Hospital, Universitas Indonesia, Jakarta, Indonesia.
²⁹ Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.
³⁰ Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Catalonia, Spain.
³¹ Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Infantil I de La Dona Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.
³² Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.
³³ Pediatric Hematology-Immunology and Rheumatology Unit, Necker-Enfants malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
³⁴ French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

PMID: 40599777
PMCID: PMC12209282
DOI: 10.3389/fimmu.2025.1596971

Review

Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years

Lúcia Mamede et al. Front Immunol. 2025.

. 2025 Jun 17:16:1596971.

doi: 10.3389/fimmu.2025.1596971. eCollection 2025.

Authors

Affiliations

¹ International Patient Organisation for Primary Immunodeficiencies (IPOPI)I, Brussels, Belgium.
² Catalan Health Service, Barcelona, Spain.
³ Digitalization for the Sustainability of the Healthcare System (DS3) research group - Instituto de Investigación Biomédica de Bellvitge (IDIBELL), Barcelona, Spain.
⁴ Department of Clinical Immunology, Instituto de Medicina de Laboratorio (IML) and Health Research Institute of the Hospital Clínico San Carlos (IdISSC), Madrid, Spain.
⁵ Facultad de Medicina Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile.
⁶ Programa de Inmunogenética e Inmunología Traslacional, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Santiago, Chile.
⁷ Unidad de Inmunología y Reumatología, Hospital Roberto del Río, Santiago, Chile.
⁸ Immunology Unit, Department of Human Pathology, University of Nairobi, Nairobi, Kenya.
⁹ CHI - the Chair of Health Informatics, Technical University of Munich University Hospital, Munich, Germany.
¹⁰ Munich Data Science Institute (MDSI), München, Germany.
¹¹ the Munich Center for Machine Learning (MCML), München, Germany.
¹² Institute of Nanotechnology and Advanced Materials, The Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel.
¹³ Université de Paris, Imagine Institute, Data Science Platform, INSERM UMR 1163, Paris, France.
¹⁴ Health-Ecore B.V., Zeist, Netherlands.
¹⁵ Unit of Global Health, Department of Health Sciences, University Medical Center Groningen (UMCG), University of Groningen, Groningen, Netherlands.
¹⁶ Department of Management Sciences, Open University, Heerlen, Netherlands.
¹⁷ Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong, Hong Kong SAR, China.
¹⁸ Department of Paediatric Immunology and Gene Therapy, Great Ormond Street Hospital, London, United Kingdom.
¹⁹ Infection, Immunity and Inflammation Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
²⁰ Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, United States.
²¹ Department of Health Systems and Implementation Science, Virginia Tech Carilion School of Medicine, Roanoke, VA, United States.
²² The Department of Pediatrics, Pediatric Stem Cell Transplantation Program, Willem-Alexander Children's Hospital, Leiden, Netherlands.
²³ The Department of Immunology, Leiden University Medical Center, Leiden, Netherlands.
²⁴ Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
²⁵ Institute of Immunity and Transplantation, University College London, London, United Kingdom.
²⁶ Departments of Internal Medicine, Division of Allergy & Clinical Immunology, Immunology, Erasmus University Medical Center Rotterdam, Rotterdam, Netherlands.
²⁷ Department of Microbiology, Chulalongkorn University, Bangkok, Thailand.
²⁸ Department of Internal Medicine, Clinical Immunology, Cipto Hospital, Universitas Indonesia, Jakarta, Indonesia.
²⁹ Universitat Autònoma de Barcelona (UAB), Barcelona, Catalonia, Spain.
³⁰ Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Catalonia, Spain.
³¹ Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Infantil I de La Dona Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.
³² Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.
³³ Pediatric Hematology-Immunology and Rheumatology Unit, Necker-Enfants malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
³⁴ French National Reference Center for Primary Immune Deficiencies (CEREDIH), Necker-Enfants malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

PMID: 40599777
PMCID: PMC12209282
DOI: 10.3389/fimmu.2025.1596971

Abstract

Introduction: The International Patient Organisation for Primary Immunodeficiencies (IPOPI) held its third edition of the Global Multi-Stakeholders' Summit, gathering key primary immunodeficiencies (PID) stakeholders and experts to discuss and foment global collaboration.

Methods: This edition focused on the impact of genomic medicine in PID treatment, the role of digital health, including artificial intelligence, in PID care, and how to anticipate and minimise risks to ensure optimal patient access to care.

Results: These discussions aimed to examine current hurdles and brainstorm feasible solutions and priorities for the PID community in these areas in the next ten years.

Discussion: These discussions led to recommendations for comprehensive approaches to care and access to treatment for PID patients, suggesting actions that will bring the community closer to treatments based on real-world evidence and adjusted to patient's needs. To accomplish this, collaboration between academia, industry, regulatory authorities, and patients is crucial.

Keywords: artificial intelligence - AI; digital health; gene therapy (GT); immunoglobulin replacement therapy (IGRT); inborn errors of immunity (IEI); patient-reported outcome measures (PROMs); primary immunodeficiencies (PIDs); targeted therapies.

Copyright © 2025 Mamede, Sabà, Van Coillie, Prévot, Sánchez-Ramón, Poli, Barasa, Schuller, Hendel, Garcelon, Boersma, Lee, Booth, Notarangelo, Drabwell, Rider, Staal, Burns, Van Hagen, Pergent, Rivière and Mahlaoui.

PubMed Disclaimer

Conflict of interest statement

AH is a founder, CSO, and holds shares in Cassidy Bio, a genome editing startup company. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

References

1. Alligon M, Mahlaoui N, Courteille V, Costes L, Afonso V, Randrianomenjanahary P, et al. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years. J Allergy Clin Immunol. (2022) 149:2116–25. doi: 10.1016/j.jaci.2021.12.790 - DOI - PubMed
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Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years

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Navigating disruption in the PID landscape: embracing opportunities and anticipating threats in the next ten years

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