Evidence map›Paper›PMID 41347188›Full record

ArticleJournal of human immunity2025

Inborn errors of immunity: Manifestation, treatment, and outcome-an ESID registry 1994-2024 report on 30,628 patients.

Gerhard Kindle, Mickaël Alligon, Michael H Albert, Matthew Buckland, J David Edgar, Benjamin Gathmann, Sujal Ghosh, Antonios Gkantaras, Alexandra Nieters, Claudio Pignata and 21 more

Abstract read
In one paragraph

Article in Journal of human immunity, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Clinical pearls and pitfalls in inborn errors of immunity: An expert-derived framework for diagnostic pattern recognition.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    Review
  6. Behind the scenes: Primary immunodeficiencies in pediatric eosinophilic gastrointestinal diseases.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026
    Article
  7. Article
  8. Review
  9. Article
  10. Quality and Safety Intervention: Improving Care of Patients Undergoing B Cell-Targeted Therapies.The journal of allergy and clinical immunology. In practice · 2026
    Article
  11. Article
  12. Article
  13. The early history of the ESID registry.Journal of human immunity · 2026
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

31 authors.

Gerhard Kindle *Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0003-0894-5327
Mickaël Alligon *French National Reference Center for Primary Immune Deficiencies, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID https://orcid.org/0009-0000-6635-2170
Michael H AlbertDepartment of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians Universität München, Munich, Germany.ORCID https://orcid.org/0000-0001-9143-3263
Matthew BucklandBarts Health National Health Service Trust, London, UK.ORCID https://orcid.org/0000-0002-5646-4707
J David EdgarDepartment of Immunology, St James's Hospital, and School of Medicine, Trinity College Dublin, Dublin, Ireland.ORCID https://orcid.org/0000-0003-2969-4475
Benjamin GathmannInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0009-0009-9555-7357
Sujal GhoshDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, Germany.ORCID https://orcid.org/0000-0001-5647-4262
Antonios GkantarasPediatric Immunology and Rheumatology Referral Center, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece.ORCID https://orcid.org/0000-0003-3609-1824
Alexandra NietersInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-6184-9759
Claudio PignataDepartment of Translational Medical Sciences, Federico II University, Naples, Italy.ORCID https://orcid.org/0000-0003-1568-9843
Peter N RobinsonBerlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany.ORCID https://orcid.org/0000-0002-0736-9199
Stephan RuschInstitute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-3529-1384
Catharina SchuetzDepartment of Pediatrics and University Center for Rare Diseases, Medizinische Fakultät Carl Gustav Carus, Technische Universität, Dresden, Germany.ORCID https://orcid.org/0009-0003-6519-0482
Svetlana SharapovaResearch Department, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk Region, Belarus.ORCID https://orcid.org/0000-0003-1390-2348
Benjamin ShillitoePaediatric Immunology and Infectious Diseases, Sheffield Children's NHS Foundation Trust, Sheffield, UK.ORCID https://orcid.org/0000-0003-4407-5998
Fabio CandottiDivision of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.ORCID https://orcid.org/0000-0001-6399-6042
Andrew J CantTranslational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, England.ORCID https://orcid.org/0009-0006-6148-3511
Jean-Laurent CasanovaLaboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Paris, France.ORCID https://orcid.org/0000-0002-7782-4169
Amos EtzioniFaculty of Medicine, Technion, Haifa, Israel.ORCID https://orcid.org/0000-0002-0381-8049
Alain FischerUnité d'immunologie Pédiatrique, Hôpital Necker Enfants Malades, Paris, France.ORCID https://orcid.org/0000-0003-4025-5983
Isabelle MeytsDepartment of Pediatrics, Department of Microbiology, Immunology and Transplantation, ERN-RITA Core Center, University Hospitals Leuven, KU Leuven, Leuven, Belgium.ORCID https://orcid.org/0000-0003-1214-0302
Luigi D NotarangeloLaboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.ORCID https://orcid.org/0000-0002-8335-0262
Martine PergentInternational Patient Organisation for Primary Immunodeficiencies, Brussels, Belgium.ORCID https://orcid.org/0000-0003-1032-6584
C I Edvard SmithDepartment of Laboratory Medicine, Clinical Immunology, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0003-1907-3392
ESID Registry Working Party
Lennart Hammarström *Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.ORCID https://orcid.org/0000-0002-8635-9609
Bodo Grimbacher *Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-6897-6806
Mikko R J Seppänen *Rare Disease Center and Pediatric Research Center, Children and Adolescents, University of Helsinki, HUS Helsinki University Hospital, ERN-RITA Core Center, RITAFIN, Helsinki, Finland.ORCID https://orcid.org/0000-0001-9733-3650
Nizar Mahlaoui *French National Reference Center for Primary Immune Deficiencies, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.ORCID https://orcid.org/0000-0002-0030-8094
Stephan Ehl *Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.ORCID https://orcid.org/0000-0002-9265-2721
Markus G Seidel *Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, Styrian Children's Cancer Research Unit for Cancer and Inborn Errors of the Blood and Immunity in Children, Medical University of Graz, Graz, Austria.ORCID https://orcid.org/0000-0003-0981-8661

Funding

Characterization of the cellular and molecular bases of inborn errors of immunityZIAAI001222 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI NOTARANGELO, LUIGI · 2017 to 2025
$15.2M
Intramural NIH HHS ZIA AI001222
6 · The paper itself

Abstract

The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the world's largest databases on inborn errors of immunity (IEI). IEI are genetic disorders predisposing patients to infections, autoimmunity, inflammation, allergies, and malignancies. Treatments include antimicrobial therapy, immunoglobulin replacement, immune modulation, stem cell transplantation, and gene therapy. Data from 194 centers in 33 countries capture clinical manifestations and treatments from birth onward, with annually expected updates. This report reviews the ESID-R's structure, data content, and impact. The registry includes 30,628 patient datasets (aged 0-97.9 years; median follow-up: 7.2 years; total 825,568.2 patient-years), with 13,550 cases in 15 sub-studies. It has produced 84 peer-reviewed publications (mean citation rate: 95). Findings include real-world observations of IEI diagnoses, genetic causes, clinical manifestations, treatments, and survival trends. The ESID-R fosters global collaboration, advancing IEI research and patient care. This report highlights the key role of the multinational ESID-R, led by an independent medical society, in evidence-based discovery.

Identifiers

PMID41347188
PMCPMC12674179

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.