Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.

The Journal of Allergy and Clinical Immunology. in Practice
Marie-Louise FrémondBénédicte Neven

Abstract

Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characterized by early-onset systemic inflammation, skin vasculopathy, and interstitial lung disease (ILD). To describe a cohort of patients with SAVI. Assessment of clinical, radiological and immunological data from 21 patients (17 families) was carried out. Patients carried heterozygous substitutions in STING1 previously described in SAVI, mainly the p.V155M. Most were symptomatic from infancy, but late onset in adulthood occurred in 1 patient. Systemic inflammation, skin vasculopathy, and ILD were observed in 19, 18, and 21 patients, respectively. Extensive tissue loss occurred in 4 patients. Severity of ILD was highly variable with insidious progression up to end-stage respiratory failure reached at teenage in 6 patients. Lung imaging revealed early fibrotic lesions. Failure to thrive was almost constant, with severe growth failure seen in 4 patients. Seven patients presented polyarthritis, and the phenotype in 1 infant mimicked a combined immunodeficiency. Extended features reminiscent of other interferonopathies were also found, including intracranial ca...Continue Reading

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Citations

Jun 6, 2021·Journal of Clinical Immunology·Elisa OchfeldAmer Khojah
May 27, 2021·Nature Reviews. Rheumatology·Ivona Aksentijevich, Oskar Schnappauf
Aug 11, 2021·The Journal of Allergy and Clinical Immunology·Yanick J CrowMarie-Louise Frémond
Oct 5, 2021·Frontiers in Immunology·Jérôme HadjadjBénédicte Neven

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