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Related Concept Videos

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Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Microsporidia are a group of obligate intracellular fungi that were initially classified as protists but were later reclassified based on phylogenetic, molecular, and structural evidence linking them to the Chytridiomycota. These unicellular, non-motile organisms are highly specialized parasites that infect a wide range of animal hosts, including humans. They have evolved extensive genomic and metabolic reductions, making them highly dependent on their hosts for survival.Morphology and Genomic...
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Related Experiment Video

Updated: Jan 7, 2026

Whole Genome Sequencing of Candida glabrata for Detection of Markers of Antifungal Drug Resistance
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CARD9 Mutations in Patients with Invasive Fungal Infections.

Gizem Guner Ozenen1, Enise Avci Durmusalioglu2, Durdugul Ayyildiz Emecen2

  • 1Division of Infectious Diseases, Department of Pediatrics, Medical School of Ege University, Izmir, Turkey.

Mycopathologia
|December 18, 2025
PubMed
Summary
This summary is machine-generated.

Genetic analysis revealed CARD9 mutations in 6.6% of Turkish children with invasive fungal infections. This study highlights a novel pediatric case of Pseudallescheria boydii infection linked to a CARD9 mutation.

Keywords:
CARD9 mutationsCandidaCandidiasisChildrenFungal infection

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Area of Science:

  • Immunology
  • Medical Genetics

Background:

  • Caspase-recruitment domain 9 (CARD9) mutations are linked to increased susceptibility to invasive fungal infections, especially Candida species.
  • Understanding CARD9's role is crucial for managing these infections.

Purpose of the Study:

  • To investigate the spectrum of CARD9 gene mutations in Turkish individuals, particularly children, with invasive fungal infections.
  • To identify genetic predispositions to fungal infections in the Turkish pediatric population.

Main Methods:

  • Sequencing analysis of all 12 exons and exon-intron junctions of the CARD9 gene.
  • Inclusion of 30 patients diagnosed with invasive fungal infection or chronic mucocutaneous candidiasis between 2020-2023.
  • Collection and analysis of demographic and clinical data.

Main Results:

  • A disease-causing CARD9 mutation was identified in 2 out of 30 patients (6.6%).
  • Diagnoses included fungal endocarditis, chronic mucocutaneous candidiasis, CNS infections, and candidemia.
  • One patient with a Pseudallescheria boydii brain abscess had a detected CARD9 mutation.

Conclusions:

  • CARD9 mutations were found in 6.6% of pediatric patients with invasive fungal infections in Turkey.
  • This study reports the first pediatric case of Pseudallescheria boydii infection associated with a CARD9 mutation.
  • Genetic screening for CARD9 mutations may aid in diagnosing and managing invasive fungal infections.