ArticleAnnals of pediatric cardiology
Aortic calcification in a patient with a STAT1 mutation.
Article in Annals of pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors.
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Abstract
Chronic mucocutaneous candidiasis (CMC) is a condition characterized by persistent or recurrent infections caused by candida species. Gain-of-function (GOF) mutations in signal transducer and activator of transcription-1 (STAT1) have been identified as a major cause of CMC and are linked to a broad clinical spectrum, including increased susceptibility to infections and vascular abnormalities. We present the case of aortic calcification in a patient with a STAT1 GOF mutation. The 8-year-old male patient had recurrent oral ulcers, upper respiratory tract infections, and pneumonia, and was found to have calcifications in the aortic arch and branches. Treatment with ruxolitinib led to significant clinical improvement, although no regression in aortic calcification was observed. STAT1 GOF mutations may enhance a pro-osteogenic environment through sustained activation of the Janus Kinase (JAK)-STAT pathway. This case highlights the potential link between STAT1 GOF mutations and vascular calcification and underscores the need for further investigation into the long-term vascular impact of JAK inhibition.
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