Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway
| Autor: | Zineb Jouhadi, N Alaoui Mrani, S El Azbaoui, Ayoub Sabri, J. El Baghdadi, J-L Casanova, Aziz Bousfiha, Fatima Ailal, Erwin Schurr, Stéphanie Boisson-Dupuis, Caroline Deswarte, J. Najib, N. El Hafidi, Laurent Abel, Jacinta Bustamante |
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| Rok vydání: | 2015 |
| Předmět: |
Pulmonary and Respiratory Medicine
Spondylodiscitis Pathology medicine.medical_specialty Tuberculosis biology business.industry Disease medicine.disease biology.organism_classification QuantiFERON Mycobacterium tuberculosis Infectious Diseases Pharmacotherapy Immunology medicine Interferon gamma Prospective cohort study business medicine.drug |
| Zdroj: | The International Journal of Tuberculosis and Lung Disease. 19:1455-1462 |
| ISSN: | 1815-7920 1027-3719 |
| DOI: | 10.5588/ijtld.15.0290 |
| Popis: | Setting Tuberculosis spondylodiscitis (TS), or Pott's disease, an extra-pulmonary form of tuberculosis (TB), is rare and difficult to diagnose in children. Some cases of severe TB in children were recently explained by inborn errors of immunity affecting the interleukin-12/interferon-gamma (IL-12/IFN-γ) axis. Objective To analyse clinical data on Moroccan children with TS, and to perform immunological and genetic explorations of the IL-12/IFN-γ axis. Design We studied nine children with TS diagnosed between 2012 and 2014. We investigated the IL-12/IFN-γ circuit by both whole-blood assays and sequencing of the coding regions of 14 core genes of this pathway. Results A diagnosis of TS was based on a combination of clinical, biological, histological and radiological data. QuantiFERON(®)-TB Gold In-Tube results were positive in 75% of patients. Whole-blood assays showed normal IL-12 and IFN-γ production in all but one patient, who displayed impaired decreased response to IL-12. No candidate disease-causing mutations were detected in the exonic regions of the 14 genes. Conclusions TS diagnosis in children remains challenging, and is based largely on imaging. Further investigations of TS in children are required to determine the role of genetic defects in pathways that may or may not be related to the IL-12/IFN-γ axis. |
| Databáze: | OpenAIRE |
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