Evaluation of the Relationship between CARD9 Mutations and Invasive Fungal Infections in Pediatric Patients
Project no. 21662 · Status: Kapanmış · 2020
Summary
<p>Candida species are opportunistic pathogens and are among the causes of hospital infections. Early diagnosis and treatment are important in reducing mortality and morbidity. The host defense primarily determines the clinical form in which the Candida infection will end. Clinical manifestations are divided into skin and mucous candida infections and invasive infections. Although general risk factors (e.g., immunosuppression) are important in developing invasive fungal infections, this is insufficient to explain the development of all Candida infections. In many studies, It has been reported that there is a relationship between genetic differences and an increased risk of candidemia and that there are different genetic structures that distinguish mucosal candida infection and systemic candidemia. Studies have reported that a homozygous mutation in the caspase recruitment domain-containing protein 9 (CARD9) gene, which encodes a protein that reduces the signal of dectin-1, increases the susceptibility to both mucosal and invasive Candida infections. Many patients with mutations in CARD9 leading to fungal infections have been identified. Most innate mutations in immunity predisposing to fungal disease typically also lead to the development of non-fungal infections. In contrast, CARD9 mutations appear only to affect susceptibility to fungal infections. This observation suggests that CARD9 is a key regulator of antifungal immunity. Our study aims to determine the spectrum of mutations in the CARD9 gene that predisposes to the development of invasive fungal infection in pediatric patients in Turkish society, to identify possible new mutations in the CARD9 gene that predispose to the development of invasive fungal infection, and to contribute to the diagnosis, follow-up and treatment criteria of the disease by making a genotype-phenotype correlation in patients with invasive fungal infection. Our study is the first to determine the spectrum of mutations in the CARD9 gene, which predisposes to the development of invasive fungal infections in pediatric patients in the Turkish population.</p>