ArticleBioMed research international2018
Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing.
Article in BioMed research international, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 29 citations in OpenAlex.
- Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Review
- Case Report: Diagnosis ofFrontiers in medicine · 2025Article
- Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency.The journal of allergy and clinical immunology. Global · 2024Article
- Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience.Immunologic research · 2024Article
- Review
- Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022Article
- Common variable immunodeficiency: different faces of the same disease.Postepy dermatologii i alergologii · 2021Article
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).Scientific reports · 2021Article
- A Pathogenic Missense Variant inFrontiers in immunology · 2021Article
- Whole exome sequencing of a Saudi family and systems biology analysis identifiesSaudi journal of biological sciences · 2020Article
- Recent advances in elucidating the genetics of common variable immunodeficiency.Genes & diseases · 2020Review
- Review
- All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing.Frontiers in immunology · 2019Article
- Castleman Disease in a Patient with Common Variable Immunodeficiency.Case reports in immunology · 2019Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Common variable immunodeficiency (CVID) belongs to the primary immunodeficiency disorders (PIDs), presenting a profound heterogeneity in phenotype and genotype, with monogenic or complex causes. Recurrent respiratory infections are the most common clinical manifestations. CVID patients can also develop various autoimmune and lymphoproliferative complications. Genetic testing such as whole exome sequencing (WES) can be utilized to investigate likely genetic defects, helping for better clinical management. We described the clinical phenotypes of three sporadic cases of CVID, who developed recurrent respiratory infections with different autoimmune and lymphoproliferative complications. WES was applied to screen disease-causing or disease-associated mutations. Two patients were identified to have monogenic disorders, with compound heterozygous mutations in
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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.