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Elexacaftor/tezacaftor/ivacaftor in an individual with cystic fibrosis caused by a N1303K CFTR variant and infected with Mycobacterium abscessus
  • +3
  • E. Elson,
  • Paula Capel,
  • Jessica Haynes,
  • Stephanie Duehlmeyer,
  • Michelle Fischer,
  • Hugo Escobar
E. Elson
Children's Mercy Hospital
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Paula Capel
Children's Mercy Hospital
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Jessica Haynes
Children's Mercy Hospital
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Stephanie Duehlmeyer
Children's Mercy Hospital
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Michelle Fischer
Children's Mercy Hospital
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Hugo Escobar
Childrens Mercy Hospital
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Abstract

This report describes a case of a 15-year-old male with cystic fibrosis caused by N1303K and Q493X cystic fibrosis transmembrane conductance regulator (CFTR) protein variants. In this case, CFTR modulators including tezacaftor/ivacaftor and subsequently elexacaftor/tezacaftor/ivacaftor were utilized and resulted in clinical stability and improvement.