Human Genetics of Tuberculosis of the Nervous System

Baghdadi, Jamila El; Azbaoui, Safa El; Ailal, Fatima; Akhaddar, Ali; Sabri, Ayoub; Kong, Xiao‐Fei; Bousfiha, Ahmed Aziz; Casanova, Jean Laurent; Abel, Laurent; Boisson–Dupuis, Stéphanie

doi:10.1007/978-3-319-50712-5_2

Cited by 2 publications

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References 37 publications

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“…The risk of development of the disease is highest during the first year of the contact and ranges up to 50% 6-10, 22, 23 . In the incidence of TB, genetic predisposition has an important role as well 24,25 .…”

Section: Discussionmentioning

confidence: 99%

Difficulties in diagnosis of tuberculosis without bacteriologic confirmation in a 15-year-old boy from contact with a patient with tuberculosis: A case report

et al. 2018

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Introduction. After the contact with a patient suffering from tuberculosis (TB), previously healthy children have 1%?16% possibility to develop the disease. TB diagnosis in children is not easy to confirm so 15%?25% of cases remain undiagnosed. Case report. A 15-yearold- boy was hospitalized with productive cough, pain in the right flank area, fever, and fatigue, loss of appetite and night sweats. One of the boy's uncles was cured of tuberculosis, another uncle had active tuberculosis and both of them were in contact with the boy, but they did not live in the same household. During the physical examination, the child was febrile, with dyspnea, pale, with profuse sweating, debilitate. BCG (Bacillus Calmette ? Gu?rin) scar was present. The auscultatory findings of the lungs showed quiet breathing from the scapula to the right lung base and chest radiography suggested massive right sided pleuropneumonia. The parameters of the inflammation were high and Mycobacterium tuberculosis (MTB) was not found in the samples of sputum and gastric lavage. Pleural puncture revealed exudative nature in the aspirated fragment. Cytology was nonspecific, the MTB was not found and the planted surfaces on Lowenstein-Jensen remained sterile. Tuberculin skin test (TST) ? Mantoux was positive (+ 10 mm), Interferon Gamma Release Assay (QuantiFERON- TB GOLD In-Tube) was negative. The boy was unsuccessfully treated with broad spectrum antibiotics. By video-assisted thoracoscopy, the pleural tissue clip confirmed the benign chronic granulomatous process, while histochemical staining did not show MTB. The treatment with anti-TB medication led to clinical and radiographic recovery. The boy is now in good general condition, without consequences of the disease. Conclusion. This case report pointed out the importance of risk factors and difficulties in diagnosing TB in children.

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Section: Discussionmentioning

confidence: 99%

Difficulties in diagnosis of tuberculosis without bacteriologic confirmation in a 15-year-old boy from contact with a patient with tuberculosis: A case report

et al. 2018

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Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds

et al. 2023

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The rst molecular evidence of a monogenic predisposition to mycobacteria came from the study of Mendelian susceptibility to mycobacterial disease (MSMD). We aimed to study this Mendelian susceptibility to mycobacterial diseases in Moroccan kindreds through clinical, immunological and genetic analysis. MethodsPatients presented with clinical features of MSMD, were recruited into this study. We used whole blood samples from patients and age-matched healthy controls. To measure IL-12 and IFN-γ production, samples were activated by BCG plus recombinant human IFN-γ or recombinant human IL-12. Immunological assessments and genetic analysis were also done for patients and their relatives. ResultsOur study involved 22 cases from 15 unrelated Moroccan kindreds. The average age at diagnosis is 4 years. Fourteen patients (64%) were born to consanguineous parents. All patients were vaccinated with BCG vaccine, twelve of them (55%) developed loco-regional or disseminated BCG infections. The other symptomatic patients had severe tuberculosis and/or recurrent salmonellosis. Genetic mutations were identi ed on the following genes: IL12RB1 in 8 patients, STAT1 in 7 patients, SPPL2A, IFNGR1 and TYK2 in two patients and TBX21 in one patient, with different modes of inheritance. All identi ed mutations/variants altered production or response to IFN-γ or both. ConclusionSevere forms of tuberculosis and complications of BCG vaccination may imply a genetic predisposition present in the Moroccan population. In front of these infections, systematic genetic studies became necessary. BCG vaccination is contraindicated in MSMD patients and should be delayed in newborns siblings until the exclusion of a genetic predisposition to mycobacteria.

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Human Genetics of Tuberculosis of the Nervous System

Cited by 2 publications

References 37 publications

Difficulties in diagnosis of tuberculosis without bacteriologic confirmation in a 15-year-old boy from contact with a patient with tuberculosis: A case report

Difficulties in diagnosis of tuberculosis without bacteriologic confirmation in a 15-year-old boy from contact with a patient with tuberculosis: A case report

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds

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