ReviewJournal of clinical immunology2014
Inborn errors of metabolism underlying primary immunodeficiencies.
Review in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan.The Kobe journal of medical sciences · 2025Article
- Not just sugar: metabolic control of neutrophil development and effector functions.Journal of leukocyte biology · 2024Review
- The Reciprocal Interplay between Infections and Inherited Metabolic Disorders.Microorganisms · 2023Review
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.Molecular genetics and metabolism · 2023Review
- BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism.Frontiers in immunology · 2022Article
- A case with Gaucher disease unable to reach enzyme replacement therapy because of COVID-19 quarantine: The first case from Turkey.Turkish archives of pediatrics · 2021Article
- The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.Molecular genetics and metabolism · 2020Article
- Chemical individuality in T cells: A Garrodian view of immunometabolism.Immunological reviews · 2020Review
- Intrinsic and Extrinsic Determinants of T Cell Metabolism in Health and Disease.Frontiers in molecular biosciences · 2019Review
- Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2018Review
- MicroRNA and Transcriptomic Profiling Showed miRNA-Dependent Impairment of Systemic Regulation and Synthesis of Biomolecules in Rag2 KO Mice.Molecules (Basel, Switzerland) · 2018Article
- Primary Immunodeficiencies and Inflammatory Disease: A Growing Genetic Intersection.Trends in immunology · 2016Review
- New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.Rare diseases (Austin, Tex.) · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of inborn errors of metabolism (IEM) have been shown to result in predominantly immunologic phenotypes, manifesting in part as inborn errors of immunity. These phenotypes are mostly caused by defects that affect the (i) quality or quantity of essential structural building blocks (e.g., nucleic acids, and amino acids), (ii) cellular energy economy (e.g., glucose metabolism), (iii) post-translational protein modification (e.g., glycosylation) or (iv) mitochondrial function. Presenting as multisystemic defects, they also affect innate or adaptive immunity, or both, and display various types of immune dysregulation. Specific and potentially curative therapies are available for some of these diseases, whereas targeted treatments capable of inducing clinical remission are available for others. We will herein review the pathogenesis, diagnosis, and treatment of primary immunodeficiencies (PIDs) due to underlying metabolic disorders.
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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.