Elexacaftor/tezacaftor/ivacaftor in an individual with cystic fibrosis caused by a N1303K CFTR variant and infected with Mycobacterium abscessus

E. Elson; Paula Capel; Jessica Haynes; Stephanie Duehlmeyer; Michelle  Fischer; Hugo Escobar

doi:10.22541/au.162557026.63565386/v1

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Elexacaftor/tezacaftor/ivacaftor in an individual with cystic fibrosis caused by a N1303K CFTR variant and infected with Mycobacterium abscessus

E. Elson,
Paula Capel,
Jessica Haynes,
Stephanie Duehlmeyer,
Michelle Fischer,
Hugo Escobar

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.