Sting-associated Vasculopathy With Onset In Infancy
What's New
Last Posted: Aug 23, 2024
- Mosaic TMEM137 gene mutation R284S leading to STING-associated vasculopathy with onset in infancy (SAVI).
Zhou Yang, et al. International journal of dermatology 2024 0 - Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173.
Seo Jieun, et al. The Journal of allergy and clinical immunology 2017 0 (4) 1396-1399.e12 - Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan Ilker et al. Rheumatology international 2019 Feb - STING-associated vasculopathy with onset in infancy
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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