Phenotypic spectrum in recessive sting-associated vasculopathy with onset in infancy: four novel cases and analysis of previously reported cases

HIGHLIGHTS

• who: Rensheng Wan from the National Institute of Arthritis and (NIH), United States University of Texas Southwestern have published the research: Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases, in the Journal: (JOURNAL)
• what: The authors report on three patients of three unrelated families harboring PV c.841C>T p.(Arg281Trp) in STING1 (NM_198282.3) that only causes SAVI when homozygous. The authors show that treatment with hydroxychloroquine and high-dose methylprednisolone courses in first case may have beneficial effects on mitigation of . . .
  

   

  

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