The immunogenetics of tuberculosis (TB) susceptibility

Sima, Carene Anne Alene Ndong; Smith, Dayna; Petersen, Desiree C.; Schurz, Haiko; Uren, Caitlin; Möller, Marlo

doi:10.1007/s00251-022-01290-5

Cited by 5 publications

(3 citation statements)

References 126 publications

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“… 2 In 2021, an estimated 10.6 million people were infected with TB and 1.6 million died from TB worldwide. In addition, TB incidence increased by 3.6% in 2021 compared to 2020 3 . Despite preventive and curative measures, TB remains a burden on healthcare systems.…”

Section: Introductionmentioning

confidence: 99%

Clinical characteristics and treatment outcomes of tuberculous tenosynovitis of the hand and wrist

Ngoc¹,

Tuan²,

Thinh³

et al. 2023

Int. J. Med. Sci.

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Objective : Vietnam is endemic with tuberculosis (TB), which is highly prevalent in the community. TB tenosynovitis of the wrist and hand is uncommon. Because of its insidious progression and atypical presentations, it is often difficult to diagnose, leading to treatment delays. This study investigates the characteristics of clinical and subclinical signs and treatment outcomes of patients with TB tenosynovitis in Vietnam. Patients and Methods : This prospective longitudinal cross-sectional study included 25 TB tenosynovitis patients in the Rheumatology Clinic at University Medical Center Ho Chi Minh City. The diagnosis was made based on a tuberculous cyst in histopathological specimens. The data were collected through medical history, physical examination, and medical records, including demographics, signs, symptoms, condition duration, and related laboratory tests and imaging. The outcomes of all participants were assessed after 12 months of treatment. Results : The most common symptom of TB tenosynovitis was swelling of the hand and wrist, which was present in all patients. Its other symptoms included mild pain and numbness of the hand in 72% and 24% of patients, respectively. It can affect any site on the hand. Hand ultrasound findings included thickening of the synovial membrane (80%), peritendinous effusion (64%), and soft tissue swelling (88%). Most patients (18/22) had a good outcome after the treatment with anti-tubercular drugs. Conclusions : TB tenosynovitis progression is often insidious. Its most common symptoms are swelling of the hand and mild pain. Ultrasound is a useful tool to support the diagnosis. A histological examination confirms the diagnosis. Most cases respond and have a good outcome after 9-12 months of anti-tuberculosis treatment.

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Section: Introductionmentioning

confidence: 99%

Clinical characteristics and treatment outcomes of tuberculous tenosynovitis of the hand and wrist

Ngoc¹,

Tuan²,

Thinh³

et al. 2023

Int. J. Med. Sci.

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“…Tuberculosis (TB) is an infectious disease caused by the pathogenic bacterium Mycobacterium tuberculosis (Mtb) [1][2][3][4][5]. TB is one of the most important causes of death worldwide, according to the World Health Organization (WHO), with an estimated 10 million cases and 1.5 million deaths worldwide [6].…”

Section: Introductionmentioning

confidence: 99%

Tuberculosis Severity Predictive Model Using Mtb Variants and Serum Biomarkers in a Colombian Cohort of APTB Patients

Ocampo,

Alzate,

Barrera

et al. 2023

Biomedicines

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Currently, tuberculosis (TB) is a bacterial infection caused by Mycobacterium tuberculosis (Mtb) that primarily affects the lungs. The severity of active pulmonary TB (APTB) is an important determinant of transmission, morbidity, mortality, disease experience, and treatment outcomes. Several publications have shown a high prevalence of disabling complications in individuals who have had severe APTB. Furthermore, certain strains of Mtb were associated with more severe disease outcomes. The use of biomarkers to predict severe APTB patients who are candidates for host-directed therapies, due to the high risk of developing post-tuberculous lung disease (PTLD), has not yet been implemented in the management of TB patients. We followed 108 individuals with APTB for 6 months using clinical tools, flow cytometry, and whole-genome sequencing (WGS). The median age of the study population was 26.5 years, and the frequency of women was 53.7%. In this study, we aimed to identify biomarkers that could help us to recognize individuals with APTB and improve our understanding of the immunopathology in these individuals. In this study, we conducted a follow-up on the treatment progress of 121 cases of APTB. The follow-up process commenced at the time of diagnosis (T0), continued with a control visit at 2 months (T2), and culminated in an exit appointment at 6 months following the completion of medical treatment (T6). People classified with severe APTB showed significantly higher levels of IL-6 (14.7 pg/mL; p < 0.05) compared to those with mild APTB (7.7 pg/mL) at T0. The AUCs for the ROC curves and the Matthews correlation coefficient values (MCC) demonstrate correlations ranging from moderate to very strong. We conducted WGS on 88 clinical isolates of Mtb, and our analysis revealed a total of 325 genes with insertions and deletions (Indels) within their coding regions when compared to the Mtb H37Rv reference genome. The pattern of association was found between serum levels of CHIT1 and the presence of Indels in Mtb isolates from patients with severe APTB. A key finding in our study was the high levels of CHIT1 in severe APTB patients. We identified a biomarker profile (IL-6, IFN-γ, IL-33, and CHIT1) that allows us to identify individuals with severe APTB, as well as the identification of a panel of polymorphisms (125) in clinical isolates of Mtb from individuals with severe APTB. Integrating these findings into a predictive model of severity would show promise for the management of APTB patients in the future, to guide host-directed therapy and reduce the prevalence of PTLD.

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“…It is estimated that up to 25% of the global population is latently infected with Mtb, yet only approximately 10% of these individuals develop clinical symptoms. Ndong Sima and colleagues review the evidence from multiple lines of study that susceptibility to infection and disease is influenced by genetic diversity, both of the host and of the mycobacterium (Ndong Sima et al 2022 ). The authors discuss the advantages and pitfalls of the methods for assessing the heritability of disease, including family, association, PRS, and animal model studies, and synthesise the results that have been consistent across them.…”

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confidence: 99%

Immunogenetics special issue 2023: Immunogenetics of infectious disease

Norman

2023

Immunogenetics

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The immunogenetics of tuberculosis (TB) susceptibility

Cited by 5 publications

References 126 publications

Clinical characteristics and treatment outcomes of tuberculous tenosynovitis of the hand and wrist

Clinical characteristics and treatment outcomes of tuberculous tenosynovitis of the hand and wrist

Tuberculosis Severity Predictive Model Using Mtb Variants and Serum Biomarkers in a Colombian Cohort of APTB Patients

Immunogenetics special issue 2023: Immunogenetics of infectious disease

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