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Article

A Unique Combination of Heterozygous <italic>CFTR</italic> Gene Variants in a Person with Cystic Fibrosis and <italic>Mycobacterium abscessus</italic> Infection.

Respiration; international review of thoracic diseases - 1 Jan 2025

Lemson Arthur, Lemson Arthur, Bosteels Cedric, van Ingen Jakko, Reijers Monique, Westra Dineke, Hoefsloot Wouter

Abstract excerpt

INTRODUCTION: Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. A minority of people with CF carry two heterozygous CFTR mutations other than the common Phe508del, complicating diagnosis and treatment. CASE PRESENTATION: We report the case of a 25-year-old South American male diagnosed with CF respiratory disease, characterized by a history of recurrent infections, pulmonary...

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Identifiers

PMID: 40159410
DOI: 10.1159/000545552

Genes

CFTR

Variants

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