ArticleNature immunology2011
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Article in Nature immunology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 150 papers, 2 of them syntheses that pooled it.
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.
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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
150 citing papers in PubMed, 2 syntheses or guidelines pooled it, 282 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond.Journal of human immunity · 2026Article
- Identification of a spatially organized TREM2-associated permissive macrophage niche in human pulmonary tuberculosis alveolar pneumonia.Nature communications · 2026Article
- HowVaccines · 2026Review
- IFN-γ-induced trained immunity enhances killing of priority pathogens in healthy and genetically vulnerable individuals.JCI insight · 2026Article
- Primary Immunodeficiency Diseases with BCG-Induced Diseases: A 15-Year Longitudinal Cohort Study.Journal of clinical immunology · 2026Article
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Five CGD-Linked CYBB Mutations in Chinese Patients: Insights Into Predicting IFN-γ Treatment Efficacy.Journal of clinical immunology · 2025Article
- Osteomyelitis with a Pathologic Fracture, Mortal Liver Abscess, and Cholelithiasis: Distinct Features in two Families with the Same p47-phox Mutation.Turkish archives of pediatrics · 2025Article
- Mycobacterium tuberculosis resisters despite HIV exhibit activated T cells and macrophages in their pulmonary alveoli.The Journal of clinical investigation · 2025Article
- rBCG-LTAK63 enhances protection against tuberculosis by inducing autophagy and circadian gene regulation.Frontiers in immunology · 2025Article
- Article
- Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.Journal of clinical medicine · 2024Review
- The conneXion between sex and immune responses.Nature reviews. Immunology · 2024Review
- A Mouse Model of X-Linked Chronic Granulomatous Disease for the Development of CRISPR/Cas9 Gene Therapy.Genes · 2024Article
- Interferon-Science (New York, N.Y.) · 2024Review
- Mycobacterium tuberculosis inhibits METTL14-mediated mCell discovery · 2024Article
- Multiple genetic loci influence vaccine-induced protection against Mycobacterium tuberculosis in genetically diverse mice.PLoS pathogens · 2024Article
- Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease.Pathogens (Basel, Switzerland) · 2024Review
90 more citing papers are in PubMed but not listed here.
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Authors and funding
30 authors at 14 institutions in 4 countries.
Funding
Abstract
Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This 'experiment of nature' indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria.
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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.