ReviewJournal of clinical immunology2018
Use of Genetic Testing for Primary Immunodeficiency Patients.
Review in Journal of clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 47 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
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.Journal of clinical immunology · 2019Pooled it
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- From variants to answers: The evolution of genetic counseling in IEI.Journal of human immunity · 2026Review
- Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Sociodemographic drivers of care disparity among patients with inborn errors of immunity.Current opinion in pediatrics · 2025Review
- Aggressive Head and Neck Squamous Cell Carcinoma in the Setting of GATA2 Deficiency.Head & neck · 2025Article
- Diagnostic disparities in inborn errors of immunity: From clinical suspicion to diagnosis.The journal of allergy and clinical immunology. Global · 2025Article
- Disparities in Genetic Testing for Inborn Errors of Immunity.The journal of allergy and clinical immunology. In practice · 2025Article
- Inborn errors of immunity (primary immunodeficiencies).Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2025Review
- Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.Immunologic research · 2024Article
- Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience.Journal of clinical immunology · 2024Article
- Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.Frontiers in immunology · 2024Review
- A Novel Mutation Leading to Wiskott-Aldrich Syndrome in an Ethiopian Boy: a Case Report and a Review of Literature.Journal of clinical immunology · 2023Review
- Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity.Asia Pacific allergy · 2023Article
- Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.The Journal of allergy and clinical immunology · 2023Article
- The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.The Journal of allergy and clinical immunology · 2023Article
- Knowledge, awareness, and perception on genetic testing for primary immunodeficiency disease among parents in Malaysia: a qualitative study.Frontiers in immunology · 2023Article
- Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.Frontiers in immunology · 2023Article
- Changes in Treg and Breg cells in a healthy pediatric population.Frontiers in immunology · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
19 authors at 17 institutions in 3 countries.
Funding
Abstract
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey. Finally, we delineate the CIS's recommendations for the use of genetic testing in light of these issues.
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.