Mycobacterial Infection: TB and NTM—What Are the Roles of Genetic Factors in the Pathogenesis of Mycobacterial Infection?

Yamamoto, Kazuko; Mukae, Hiroshi

doi:10.1007/978-981-10-8144-6_10

Cited by 2 publications

(1 citation statement)

References 85 publications

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“…Persons with lung pathology or compromised immune systems, such as those with chronic obstructive pulmonary disease, cystic fibrosis, and human immunodeficiency virus infection, are at particular risk of pulmonary NTM infection [65][66][67][68]. Genetic factors and use of some immunosuppressing medications are also thought to increase susceptibility [69][70][71]. Although efforts have been made to assess the risk posed by NTM in water through quantitative microbial risk assessment, so far these studies do not capture the full breadth of the complexity associated with NTM in drinking water [72][73][74].…”

Section: Routes Of Exposure and Infectionmentioning

confidence: 99%

Nontuberculous mycobacteria in drinking water systems – the challenges of characterization and risk mitigation

Dowdell

Haig

Caverly

et al. 2019

Current Opinion in Biotechnology

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Nontuberculous mycobacteria (NTM) pulmonary infections are a growing concern worldwide, with a disproportionate incidence in persons with pre-existing health conditions. NTM have frequently been found in municipally-treated drinking water and building plumbing, leading to the hypothesis that an important source of NTM exposure is drinking water. The identification and quantification of NTM in environmental samples are complicated by genetic variability among NTM species, making it challenging to determine if clinically-relevant NTM are present. Additionally, their unique cellular features and lifestyles make NTM and their nucleic acids difficult to recover. This review highlights recent work focused on quantification and characterization of NTM and on understanding the influence of source water, treatment plants, distribution systems, and building plumbing on the abundance of NTM in drinking water.

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Section: Routes Of Exposure and Infectionmentioning

confidence: 99%

Nontuberculous mycobacteria in drinking water systems – the challenges of characterization and risk mitigation

Dowdell

Haig

Caverly

et al. 2019

Current Opinion in Biotechnology

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Innate immunodeficiencies: a group of primary immunodeficiencies predisposing exclusively to common diseases

Refaat,

Oujane,

Kholaiq

et al. 2024

Egypt J Med Hum Genet

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Background Innate immune deficiencies can impair both cellular and humoral immune responses. In contrast, other immune functions may appear normal, leading to increased susceptibility to specific pathogens, such as severe viral infections or Mendelian Susceptibility to Mycobacterial Disease (MSMD). Studying these deficiencies is essential for understanding the pathophysiology of these infectious diseases. Main body While primary immunodeficiencies (PIDs) generally cause vulnerability to multiple infections, innate immunodeficiencies increase susceptibility to specific pathogens, despite normal immune responses to others. Patients with these deficiencies show normal immunoglobulins and lymphocyte subpopulations, complicating diagnosis. This review highlights genetic susceptibility to mycobacteria, pneumococci, herpes simplex virus, and candidiasis, emphasizing recognizing this subset of PIDs. Conclusion This review highlights the diverse spectrum of genetic mutations contributing to defects in innate and intrinsic immunity, including Mendelian susceptibility to mycobacterial disease (MSMD), chronic mucocutaneous candidiasis, and predispositions to invasive bacterial and viral infections. Identifying key mutations in pathprovideh such as TLR3, IFN signaling, and IL-17A/F immunity provides valuable insights into the pathogenesis of these conditions. Our findings underscore the need for early genetic diagnosis and targeted interventions, particularly in regions with high undiagnosed cases, to reduce the morbidity and mortality associated with defects in innate and intrinsic immunity.

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Mycobacterial Infection: TB and NTM—What Are the Roles of Genetic Factors in the Pathogenesis of Mycobacterial Infection?

Cited by 2 publications

References 85 publications

Nontuberculous mycobacteria in drinking water systems – the challenges of characterization and risk mitigation

Nontuberculous mycobacteria in drinking water systems – the challenges of characterization and risk mitigation

Innate immunodeficiencies: a group of primary immunodeficiencies predisposing exclusively to common diseases

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