ArticleNature communications2018
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 107 citations in OpenAlex.
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients.Journal of human immunity · 2026Article
- Molecular Views into the Synthesis and Activation of FlavocytochromeAntioxidants (Basel, Switzerland) · 2026Review
- Chronic granulomatous disease secondary to a rare compound heterozygote mutation in an adolescent cured by hematopoietic stem cell transplantation: a case report.Frontiers in pediatrics · 2026Article
- Clinical features, genotypes, and geographic distribution of 238 Latin American CGD patients.Journal of human immunity · 2025Article
- Towards IBD Prediction and Prevention: The Contribution of Genetics and Genomics.Inflammatory bowel diseases · 2025Review
- The Role of NADPH Oxidase 2 in Leukocytes.Antioxidants (Basel, Switzerland) · 2025Review
- Functional assays for the diagnosis of chronic granulomatous disease.Journal of immunological methods · 2025Review
- Novel Insights into the Pathogenesis of Inflammatory Bowel Diseases.Biomedicines · 2025Review
- Chronic granulomatous disease: lessons in cell biology from monogenic immunodeficiency.Clinical and experimental immunology · 2025Review
- Standardization of the use of opsonized zymosan as stimulus in the 1,2,3-dihydrorhodamine technique for the assessment of neutrophil respiratory burstBiomedica : revista del Instituto Nacional de Salud · 2024Article
- The Contribution of Genetic and Epigenetic Factors: An Emerging Concept in the Assessment and Prognosis of Inflammatory Bowel Diseases.International journal of molecular sciences · 2024Review
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.Journal of clinical immunology · 2024Review
- Structural basis for EROS binding to human phagocyte NADPH oxidase NOX2.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Peripheral priming induces plastic transcriptomic and proteomic responses in circulating neutrophils required for pathogen containment.Science advances · 2024Article
- Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.Frontiers in pediatrics · 2024Review
- Chronic Granulomatous Disease: a Cohort of 173 Patients-10-Years Single Center Experience from Egypt.Journal of clinical immunology · 2023Article
- Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.Journal of clinical immunology · 2023Article
- Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.Human genetics · 2023Review
Corrections and comments
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Authors and funding
35 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency of CYBC1, a previously uncharacterized protein in humans (C17orf62), leads to reduced expression of NADPH oxidase's main subunit (gp91
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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.