ReviewAnnals of the New York Academy of Sciences2011
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.
Review in Annals of the New York Academy of Sciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis 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.
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
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 87 citations in OpenAlex.
- Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.Nature · 2012Pooled it
- Trial
- Clinical recommendations for diagnosis and management of Mendelian susceptibility to mycobacterial disease in resource-limited settings.The journal of allergy and clinical immunology. Global · 2025Article
- Age-related severity of nontuberculous mycobacterial lung disease is mediated by aberrant macrophage responses and lung microbial dysbiosis.The Journal of infection · 2025Article
- The growing impact of nontuberculous mycobacteria: A multidisciplinary review of ecology, pathogenesis, diagnosis, and treatment.Infectious medicine · 2025Review
- Using host and bacterial genetic approaches to define virulence strategies and protective immunity duringmSphere · 2025Review
- Phenotypic and immune functional profiling of patients with suspected Mendelian Susceptibility to Mycobacterial Disease in South Africa.BMC immunology · 2021Article
- Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease.Frontiers in pediatrics · 2021Article
- Sexual Dimorphism and Gender in Infectious Diseases.Frontiers in immunology · 2021Review
- Primary Immunodeficiencies With Defects in Innate Immunity: Focus on Orofacial Manifestations.Frontiers in immunology · 2020Review
- Adverse Events of the BCG (Bacillus Calmette-Guérin) and Rotavirus Vaccines in a Young Infant with Inborn Error of Immunity.Case reports in immunology · 2020Article
- Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2019Article
- The X chromosome and sex-specific effects in infectious disease susceptibility.Human genomics · 2019Review
- Mycobacteria-Specific T Cells May Be Expanded From Healthy Donors and Are Near Absent in Primary Immunodeficiency Disorders.Frontiers in immunology · 2019Article
- Sexual dimorphism in bacterial infections.Biology of sex differences · 2018Review
- Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.Critical reviews in clinical laboratory sciences · 2018Review
- Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.Journal of clinical immunology · 2018Article
- IRF and STAT Transcription Factors - From Basic Biology to Roles in Infection, Protective Immunity, and Primary Immunodeficiencies.Frontiers in immunology · 2018Review
- IFNγ inhibits G-CSF induced neutrophil expansion and invasion of the CNS to prevent viral encephalitis.PLoS pathogens · 2018Article
- Chromatin Binding ofFrontiers in immunology · 2018Article
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 3 institutions in 2 countries.
Funding
Abstract
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM). Since 1996, MSMD-causing mutations have been found in six autosomal genes involved in IL-12/23-dependent, IFN-γ-mediated immunity. The aim of this review is to provide the description of the two described forms of X-linked recessive (XR) MSMD. Germline mutations in two genes, NEMO and CYBB, have long been known to cause other human diseases-incontinentia pigmenti (IP) and anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (NEMO/IKKG), and X-linked chronic granulomatous disease (CGD) (CYBB)-but specific mutations in either of these two genes have recently been shown to cause XR-MSMD. NEMO is an essential component of several NF-κB-dependent signaling pathways. The MSMD-causing mutations in NEMO selectively affect the CD40-dependent induction of IL-12 in mononuclear cells. CYBB encodes gp91(phox) , which is an essential component of the NADPH oxidase in phagocytes. The MSMD-causing mutation in CYBB selectively affects the respiratory burst in macrophages. Mutations in NEMO and CYBB may therefore cause MSMD by selectively exerting their deleterious impact on a single signaling pathway (CD40-IL-12, NEMO) or a single cell type (macrophages, CYBB). These experiments of Nature illustrate how specific germline mutations in pleiotropic genes can dissociate signaling pathways or cell lineages, thereby resulting in surprisingly narrow clinical phenotypes.
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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.