A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3–deficient patient
Résumé
Human signal transducer and activator of transcription 3 (STAT3) deficiency (Online Mendelian Inheritance in Man [OMIM] no. 147060) is a rare primary immunodeficiency caused by heterozygous mutations of STAT3, conferring susceptibility to infections and skeletal and connective tissues features. Recent morphologic data revealed that STAT3 deficiency is responsible for a diffuse vasculopathy,1, 2, 3, 4 which is characterized by alteration in mechanotransduction in the arterial wall causing hypotrophic remodeling despite increased forces exerting on the wall (circumferential wall stress), leading to enhanced susceptibility to aneurysm.
The high vascular risk of such lesions was confirmed by the sudden death of a 35-year-old patient (carrying a missense F384L STAT3 mutation) after rupture of a giant basilar artery aneurysm (see Fig E1 in this article's Online Repository at www.jacionline.org). After consent of his family, an autopsy was performed 24 hours after death.
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