Novel Stat1 Mutation Disrupts Small Ubiquitin-Related Modifier (Sumo) Conjugation Causing Gain Of Function

The E705V GOF STAT1 mutation in the consensus motif for sumoylation is associated with the occurrence of CMC, squamous cell carcinoma, and endocrinopathies. This is also the first described association of Rhodococcus equi in GOF STAT1 disease.

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