ReviewThe Journal of allergy and clinical immunology2017
Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.
Review in The Journal of allergy and clinical immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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
24 citing papers in PubMed, 43 citations in OpenAlex.
- Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy.Journal of clinical immunology · 2026Review
- Patient and caregiver perspectives on transition from pediatric to adult care in inborn errors of immunity: a Polish multicenter survey.Frontiers in immunology · 2026Article
- The Role of Environmental Exposures in Pediatric Asthma Pathogenesis: A Contemporary Narrative Review.Children (Basel, Switzerland) · 2025Review
- EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review.Frontiers in immunology · 2025Review
- Retrospective identification of the first cord blood-transplanted severe aplastic anemia in aFrontiers in immunology · 2024Review
- Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation.JCI insight · 2022Article
- Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.International archives of allergy and immunology · 2022Article
- Precision medicine: The use of tailored therapy in primary immunodeficiencies.Frontiers in immunology · 2022Review
- Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.Immunologic research · 2021Article
- Heterogeneity in combined immunodeficiencies with associated or syndromic features (Review).Experimental and therapeutic medicine · 2021Review
- How to evaluate for immunodeficiency in patients with autoimmune cytopenias: laboratory evaluation for the diagnosis of inborn errors of immunity associated with immune dysregulation.Hematology. American Society of Hematology. Education Program · 2020Review
- Update in Primary Immunodeficiencies.Acta bio-medica : Atenei Parmensis · 2020Review
- Human inborn errors of immunity: An expanding universe.Science immunology · 2020Review
- Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.Blood · 2020Review
- Hematopoietic Stem Cell Transplantation and Vasculopathy Associated With STAT3-Dominant-Negative Hyper-IgE Syndrome.Frontiers in pediatrics · 2020Article
- Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2020Review
- Autoimmunity as a continuum in primary immunodeficiency.Current opinion in pediatrics · 2019Review
- Neurological Involvement in Childhood Evans Syndrome.Journal of clinical immunology · 2019Article
- Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy.Frontiers in genetics · 2019Review
- Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.Frontiers in immunology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Primary immunodeficiency disorders (PIDs) represent a range of genetically determined diseases that typically have increased susceptibility to infections and in many cases also have evidence of immune dysregulation that often presents as autoimmunity. Most recently, the concept of gain-of-function mutations associated with PIDs has become well recognized and adds a new dimension to the understanding of this group of disorders, moving beyond the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects that have been identified in patients with previously uncharacterized PIDs has opened up the potential for targeted therapy directed at the specific disease-causing abnormality. This has been driven by linking PID-specific genetic defects to the associated unique abnormalities in cellular signaling pathways amenable to directed therapies. These include agents that either block overactive or enhance underresponsive cellular pathways. Selected primary immunodeficiencies were chosen, the genetic defects of which have been recently characterized and are amenable to targeted therapy, as a reflection of the power of precision medicine.
Indexed as
Identifiers
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.