A diagram illustrating the clinical features, diagnostic process, and management of a genetic condition. The human body diagram includes labels for cerebral calcifications, hemorrhage, seizures, BCG-itis, interstitial pneumonia, adenitis, skin ulceration, and IFN signature. Arrows indicate the flow from clinical suspicion and blood biomarkers to the identification of a genetic lesion in the STAT2 gene, leading to adapted care management, targeted therapies, and genetic counseling.

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