@entity3083 in Moroccan XXXX : clinical features and investigation of the interleukin-12/interferon-y pathway.

@entity1 @entity3083 @entity379 @entity378 @entity2246
SETTING: @entity378 ( @entity378 ), or @entity3083 , an extra-pulmonary form of @entity378 ( @entity378 ), is rare and difficult to diagnose in @entity1 . Some cases of severe @entity378 in @entity1 were recently explained by @entity2246 affecting the interleukin-12/ @entity379 (IL-12/ @entity379 ) axis. OBJECTIVE: To analyse clinical data on Moroccan @entity1 with @entity378 , and to perform immunological and genetic explorations of the IL-12/ @entity379 axis. DESIGN: We studied nine @entity1 with @entity378 diagnosed between 2012 and 2014. We investigated the IL-12/ @entity379 circuit by both whole-blood assays and sequencing of the coding regions of 14 core genes of this pathway. RESULTS: A diagnosis of @entity378 was based on a combination of clinical, biological, histological and radiological data. QuantiFERON(  )- @entity378 Gold In-Tube results were positive in 75% of @entity1 . Whole-blood assays showed normal IL-12 and @entity379 production in all but one @entity1 , who displayed impaired decreased response to IL-12. No candidate disease-causing mutations were detected in the exonic regions of the 14 genes. CONCLUSIONS: @entity378 diagnosis in @entity1 remains challenging, and is based largely on imaging. Further investigations of @entity378 in @entity1 are required to determine the role of genetic defects in pathways that may or may not be related to the IL-12/ @entity379 axis.
