ArticleCroatian medical journal2024
A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report.
Article in Croatian medical journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- The Role of Alpha-1 Antitrypsin in the Pathophysiology and Treatment of Inflammatory Lung Diseases.Journal of inflammation research · 2026Review
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3 authors.
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Abstract
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. Here, we report on a 35-year-old woman diagnosed with Kartagener's syndrome and subsequently referred for bronchiectasis testing. She was identified with a hitherto unreported AATD mutation: a heterozygous variant rs1460874866 in a previously undefined exon 4 (NM_001127701.1) of the SERPINA1 gene. Although Kartagener's syndrome is a genetic cause of bronchiectasis, patients with this syndrome are recommended to undergo AATD testing.
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39492455PMC11568382What OpenQuestion holds
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