ReviewFrontiers in immunology2024
Unmasking inborn errors of immunity: identifying the red flags of immune dysregulation.
Review in Frontiers in immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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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.
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Who cites it
14 citing papers in PubMed.
- Multidisciplinary genomic evaluation reveals adult inborn errors of immunity with rheumatic features.Journal of human immunity · 2026Article
- When to consider an inborn error of immunity: clues for physicians.Internal medicine journal · 2026Review
- Unmasking a Deeper Cause of Persistent Lung Disease: More Than Just Pneumonia.Pediatric pulmonology · 2026Article
- From CVID to PIRD: Genetic Testing Leading to Signal Transducer and Activator of Transcription 3 Gain-of-Function Diagnosis and Directed Therapy.The journal of allergy and clinical immunology. In practice · 2026Article
- Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy.Journal of clinical immunology · 2026Review
- Quality and Safety Intervention: Improving Care of Patients Undergoing B Cell-Targeted Therapies.The journal of allergy and clinical immunology. In practice · 2026Article
- Antigen Microarray Reveals Broad and Subclinical Autoimmunity in Patients with Inborn Errors of Immunity.Journal of clinical immunology · 2026Article
- Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.International journal of molecular sciences · 2026Article
- Cellular signatures of immune dysregulation in inborn errors of immunity: development of a quantitative immune balance score.Frontiers in immunology · 2026Article
- Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Frontiers in immunology · 2026Article
- Toward universal screening for disease-causing alleles: Mendelian susceptibility to mycobacterial disease as a model.Journal of human immunity · 2025Review
- Determinants of Outcome Variability in Ischemic Stroke: A Focus on Routinely Collected Biomarkers.Antioxidants (Basel, Switzerland) · 2025Article
- Expanding the Spectrum of Selective IgM Deficiency: From Infections to Immune Dysregulation.International journal of molecular sciences · 2025Article
- Inborn Errors of Immunity in Pediatric Hematology and Oncology: Diagnostic Principles for Clinical Practice.Journal of clinical medicine · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inborn errors of immunity (IEI) are rare diseases that affect the immune system. According to the latest International Union of Immunological Societies (IUIS) classification, 485 different IEI have been identified. Even if increased susceptibility to infections is the best-known symptom, IEI are no longer defined by the higher likelihood of infections alone. Immune dysregulation with autoimmune disease and hyperinflammation, lymphoproliferation, and malignancy are common manifestations and could be the only symptoms of IEI that must be recognized. An exclusive focus on infection-centered warning signs would miss around 25% of patients with IEI who initially present with other manifestations. Timely and appropriate diagnosis and treatment are essential to enhance the quality of life (QoL) and, in some cases, survival, as patients are susceptible to life-threatening infections or autoimmunity. In addition, the advantage of early diagnosis in IEI with immune dysregulation (i.e.
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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 Socratic graph.