ArticleJournal of clinical immunology2013
Primary immunodeficiency diseases worldwide: more common than generally thought.
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 144 papers, 3 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
144 citing papers in PubMed, 3 syntheses or guidelines pooled it, 312 citations in OpenAlex.
- Values and preferences of patients with inborn errors of immunity and their caregivers: a systematic review.Frontiers in immunology · 2026Pooled it
- Systematic Review of Primary Immunodeficiency Diseases in Malaysia: 1979-2020.Frontiers in immunology · 2020Pooled it
- Primary subacute epiphyseal osteomyelitis caused by Mycobacterium species in young children: a modern diagnostic approach.European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology · 2017Pooled it
- Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.Frontiers in immunology · 2019Trial
- Jeffrey's Insights: Next-generation sequencing for primary immunodeficiency diagnosis, 2019-2025.Journal of human immunity · 2027Article
- Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges.Healthcare (Basel, Switzerland) · 2026Review
- Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features.Journal of human immunity · 2026Article
- Clinical and immunologic features of adult primary antibody deficiency according to IVIGRT exposure.The Korean journal of internal medicine · 2026Article
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Uncovering genetic variation in humoral inborn errors of immunity in African populations: insights from the African genome variation database.Scientific reports · 2026Article
- Neuroimaging in inborn errors of immunity: More than infections.Neuroradiology · 2026Review
- A State of the Art Review on the Recalcitrant Candidiasis as a Clue of Inborn Errors of Immunity in Newborns.Journal of immunology research · 2026Review
- On the topical issue of assisted dying: the insurmountable challenges of human existence, and the right to exit.Frontiers in public health · 2026Article
- International survey on immunological diagnostics in children with sepsis.Intensive care medicine. Paediatric and neonatal · 2026Article
- Recent Insights on Dental Caries Microbiota in Pediatric Patients with Inborn Errors of Immunity.Advances in experimental medicine and biology · 2026Review
- Ozone as an Immunomodulator-New Therapeutic Possibilities in the Treatment of Immunodeficiencies-A Narrative Review.Current issues in molecular biology · 2025Review
- The involvement of underrepresented countries in the European rare diseases research alliance: Morocco's assets.Orphanet journal of rare diseases · 2025Article
- CVID Enteropathy Associated With Chronic Norovirus Infection: Background, Clinical Features, and Therapeutic Aspects.Reviews in medical virology · 2025Review
- Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settings.The journal of allergy and clinical immunology. Global · 2025Article
- Enhancing the Prediction of Inborn Errors of Immunity: Integrating Jeffrey Modell Foundation Criteria with Clinical Variables Using Machine Learning.Children (Basel, Switzerland) · 2025Article
84 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePrimary immunodeficiency diseases (PIDs) comprise at least 176 hereditary disorders that are thought to be individually and collectively rare. The actual prevalence and incidence of PIDs remains unclear, but recent epidemiologic studies have suggested that PIDs are more common than generally thought. Based on these studies, we attempted to estimate the worldwide prevalence and incidence of PIDs.
methodsUsing data from registries and two recent epidemiologic surveys estimating the frequencies of PIDs, we extrapolated the frequencies reported for certain countries to the populations of continents and of the world.
resultsOur upper estimates suggest that six million people may be living with a PID worldwide, whereas only 27,000-60,000 have been identified to date (all national registries and the Jeffrey Modell Centers Network, respectively). For Europe, our upper estimate was 638,000 cases, and 15,052 cases are currently registered (2.27 %). In Africa, up to 902,631 people may have a PID, whereas only 1,016 cases are currently registered. We also found that PIDs were prevalent not only in children, but also in adults, who were strongly underrepresented in registries.
conclusionSpecific, dedicated epidemiologic studies are required, to obtain more realistic statistics for PIDs and to increase the awareness of physicians and public health systems about these diseases. Furthermore, the field of PIDs is continually growing, and this is likely to lead to a revision of the definition of these conditions, potentially increasing estimates of their impact on both adults and children, at the population level.
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What OpenQuestion holds
Registered trials
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.