Evidence map›Paper›PMID 40588065›Full record

ReviewThe Journal of allergy and clinical immunology2025

Current perspectives and challenges of using artificial intelligence in immunodeficiencies.

Jacques G Rivière, Roser Cantenys-Saba, Gerard Carot-Sans, Jordi Piera-Jiménez, Manish J Butte, Pere Soler-Palacín, Xiao P Peng

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in The Journal of allergy and clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

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

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Jacques G RivièreUniversitat Autònoma de Barcelona, Barcelona, Spain; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Infantil i de La Dona Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain.
Roser Cantenys-SabaCatalan Health Service, Barcelona, Spain; Digitalization for the Sustainability of the Healthcare System (DS3) Research Group, Barcelona, Spain.
Gerard Carot-SansCatalan Health Service, Barcelona, Spain; Digitalization for the Sustainability of the Healthcare System (DS3) Research Group, Barcelona, Spain.
Jordi Piera-JiménezCatalan Health Service, Barcelona, Spain; Digitalization for the Sustainability of the Healthcare System (DS3) Research Group, Barcelona, Spain.
Manish J ButteDivision of Immunology, Allergy, and Rheumatology, Department of Pediatrics, University of California, Los Angeles, Calif; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, Calif; Department of Human Genetics, University of California, Los Angeles, Calif.
Pere Soler-PalacínUniversitat Autònoma de Barcelona, Barcelona, Spain; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Infantil i de La Dona Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain. Electronic address: pere.soler@uab.cat.
Xiao P PengDivision of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY; New York Center for RDs, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY. Electronic address: xpeng@montefiore.org.

Funding

Collaborative multi-site project to speed the identification and management of rare genetic immune diseasesR01AI153827 · NIAID · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BUTTE, MANISH J, PASANIUC, BOGDAN · 2021 to 2025
$3.9M
NIAID NIH HHS R01 AI153827
6 · The paper itself

Abstract

The rapid growth of artificial intelligence (AI) in health care is promising for screening and early diagnosis in settings that heavily rely on professional expertise, such as rare diseases like inborn errors of immunity (IEI). However, the development of AI algorithms for IEI and other rare diseases faces important challenges such as dataset sizes, availability and harmonization. Similarly, the implementation of AI-based strategies for screening and diagnosis of IEI in real-world scenarios is hampered by multiple factors including stakeholders' acceptance, ethical and legal constraints, and technologic barriers. Consequently, while the body of literature on AI-based solutions for early diagnosis of IEI continues to expand, clinical utility and widespread implementation remain limited. In this review, we provide an up-to-date comprehensive review of current applications and challenges facing AI use for IEI diagnosis and care.

Indexed as

Artificial IntelligenceImmunologic Deficiency SyndromesAlgorithmsHumansArtificial intelligenceclinical decision supportelectronic health recordsgenomicsimplementation scienceinborn errors of immunitymachine learningpredictive modelingprimary immunodeficiencyscreening algorithmsecondary immunodeficiency

Identifiers

PMID40588065
PMCPMC12991851

What OpenQuestion 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 OpenQuestion graph.