Disseminated BCG osteomyelitis related to STAT 1 gene deficiency mimicking a metastatic neuroblastoma
| Autor: | Sébastien Héritier, Caroline Masserot, Sabah Boudjemaa, Samia Hachemane, Jacinta Bustamante, Linda Dainese, Aurore Coulomb, Jean-Laurent Casanova |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
biology Osteomyelitis Virulence Context (language use) General Medicine biology.organism_classification medicine.disease Virology Pathology and Forensic Medicine Mycobacterium tuberculosis 03 medical and health sciences 030104 developmental biology Pediatrics Perinatology and Child Health Immunology medicine Allelic heterogeneity Nontuberculous mycobacteria CYBB Interleukin 12 receptor beta 1 subunit |
| Zdroj: | Pediatric and Developmental Pathology. |
| ISSN: | 1615-5742 1093-5266 |
| DOI: | 10.2350/16-02-1778-cr.1 |
| Popis: | Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette- Guerin (BCG) vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, Nine genes including 7 autosomal (STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15 and IRF8) and two X-linked genes (NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about eighteen genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant INF-γ mediated immunity. We report here a case of multifocal BCG osteomyelitis in a context Mendelian susceptibility to mycobacterial disease mimicking a metastatic neuroblastoma in a child presenting with delayed growth. The investigation of her twin sister showed the same disease. A heterozygous mutation in exon ... |
| Databáze: | OpenAIRE |
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