ReviewNature reviews. Genetics2024
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Review in Nature reviews. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Population Pharmacokinetics and Pharmacodynamics of Immunoglobulins: A Systematic Review.Clinical pharmacokinetics · 2026Pooled it
- Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2025Pooled it
- Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience.Journal of human immunity · 2026Article
- The Hao-Fountain syndrome gene USP7 restricts neurotropic orthoflavivirus entry through cell-intrinsic control of endosomal dynamics.bioRxiv : the preprint server for biology · 2026Article
- Adenosine deaminase type 2 deficiency: From rare to common.Journal of human immunity · 2026Review
- 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 · 2026Review
- Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.Nature immunology · 2026Article
- Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms.Clinical reviews in allergy & immunology · 2026Review
- Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.medRxiv : the preprint server for health sciences · 2026Article
- Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective.The journal of allergy and clinical immunology. Global · 2026Article
- Reducing Unmet Needs in Hidradenitis Suppurativa by Including the Hair Follicle Among an Arsenal of Targets.Experimental dermatology · 2026Review
- Monogenic autoimmune and autoinflammatory disorders in adulthood: recent discoveries and implications for rheumatology practice.Rheumatology (Oxford, England) · 2026Review
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- PD-L1 is an intrinsic switch for natural killer cell-mediated, TRAIL-dependent antiviral function.Cell reports · 2026Article
- Structural modeling and functional characterization of a novel gain-of-function TLR8 variant causing severe inflammatory syndrome.JCI insight · 2026Article
- Clinical characteristics and long-term prognosis of talaromycosis in children with novel and reported inborn errors of immunity.Frontiers in immunology · 2026Observational
- Sponge-like sonographic pattern of the spleen in immune dysregulation disorders.Frontiers in immunology · 2026Article
- Case Report: MECP2 and SH3KBP1 variants associated with autism spectrum disorder and immune dysregulation.Frontiers in immunology · 2026Article
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.Frontiers in genetics · 2026Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system. Namely, an increasing number of patients with IEIs present with severe dysregulations of the central nervous, digestive, renal or pulmonary systems. Current challenges in the diagnosis of IEIs that result from the segregated practice of specialized medicine could thus be mitigated, in part, by immunogenetic approaches. Starting with a brief historical overview of IEIs, we then discuss the technological advances that are facilitating the immunogenetic study of IEIs, progress in understanding disease penetrance in IEIs, the expanding universe of IEIs affecting distal organ systems and the future of genetic, biochemical and medical discoveries in this field.
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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.