ArticleJournal of clinical immunology2020
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to 2 registered trials, which are not on this map. Cited by 565 papers, 7 of them syntheses that pooled 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.
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.
Evaluation Of Non Infectious Warning Signs Of Inborn Errors Of Immunity In Children At Sohag University Hospital
Comparison of Exercise Capacity, Physical Activity Level and Quality of Life of Children With Primary Immunodeficiency With Healthy Children
Who cites it
565 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Prevalence and Incidence of Hereditary Angioedema: A Systematic Literature Review.International archives of allergy and immunology · 2026Pooled it
- Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS).BMC immunology · 2025Pooled it
- Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.American journal of clinical dermatology · 2024Pooled it
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.The Journal of experimental medicine · 2024Pooled it
- Health-related quality of life in patients with inborn errors of immunity: a bibliometric analysis.Frontiers in immunology · 2024Pooled it
- COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.Clinical immunology (Orlando, Fla.) · 2022Pooled it
- Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes.The Journal of infectious diseases · 2023Trial
- Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.Cell reports. Medicine · 2023Trial
- 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
- Chronic granulomatous disease: A multicenter study from the MENA region.Journal of human immunity · 2026Article
- A blended phenotype of primary immunodeficiency and Temtamy syndrome: Dual homozygosity forMolecular genetics and metabolism reports · 2026Article
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
- Pharmacokinetic modelling of intravenous immunoglobulin in children with primary immunodeficiencies and secondary antibody deficiencies.British journal of clinical pharmacology · 2026Article
- Understanding the disease burden and unmet needs of patients with primary immunodeficiency in China: A quantitative study.Intractable & rare diseases research · 2026Article
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.Journal of human immunity · 2026Article
- Antigen Microarray Reveals Broad and Subclinical Autoimmunity in Patients with Inborn Errors of Immunity.Journal of clinical immunology · 2026Article
- Mycobacterium tuberculosis bacteriology and immunity necessitate a multi-pronged immune strategy for vaccination.NPJ vaccines · 2026Review
- Characteristics of CD4Journal of intensive medicine · 2026Article
505 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
17 authors.
Funding
Abstract
We report the updated classification of Inborn Errors of Immunity/Primary Immunodeficiencies, compiled by the International Union of Immunological Societies Expert Committee. This report documents the key clinical and laboratory features of 430 inborn errors of immunity, including 64 gene defects that have either been discovered in the past 2 years since the previous update (published January 2018) or were characterized earlier but have since been confirmed or expanded upon in subsequent studies. The application of next-generation sequencing continues to expedite the rapid identification of novel gene defects, rare or common; broaden the immunological and clinical phenotypes of conditions arising from known gene defects and even known variants; and implement gene-specific therapies. These advances are contributing to greater understanding of the molecular, cellular, and immunological mechanisms of disease, thereby enhancing immunological knowledge while improving the management of patients and their families. This report serves as a valuable resource for the molecular diagnosis of individuals with heritable immunological disorders and also for the scientific dissection of cellular and molecular mechanisms underlying inborn errors of immunity and related human diseases.
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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.