Publications by authors named "E Kucukosmanoglu"
IKKα is a multifunctional serine/threonine kinase that controls various biological processes, either dependent on or independent of its kinase activity. However, the importance of the kinase function of IKKα in human physiology remains unknown since no biallelic variants disrupting its kinase activity have been reported. In this study, we present a homozygous germline missense variant in the kinase domain of IKKα, which is present in three children from two Turkish families.
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- Enzyme replacement therapy (ERT) can effectively manage lysosomal storage diseases, but it may cause hypersensitivity reactions in some patients.
- A study reviewed medical records of pediatric patients to assess the frequency and characteristics of these allergic reactions, finding that 25.3% experienced them, with anaphylaxis occurring in 6 cases.
- Management of hypersensitivity may include premedication and slower infusions, and some patients may require desensitization protocols to continue ERT safely.
Article Synopsis
- * A study conducted whole-exome sequencing (WES) on 303 IEI patients in Türkiye, achieving likely genetic diagnoses for 41.1% and discovering 52 novel variants, as well as new potential IEI genes in six patients.
- * The findings emphasize the importance of cross-cohort outcomes in IEI research and aim to enhance collaboration between clinical and scientific communities.
Objective: Genome-length association studies have shown that Gasdermin B (GSDMB) and Orosomucoid-like 3 (ORMDL3) genes located on the long arm of chromosome 17 are associated with asthma. In this study, it was aimed to determine the possible relationship between asthma control test (ACT), exercise provocation test (ECT), and fractional nitric oxide (FENO) levels and GSDMB and ORMDL3 gene expressions.
Methods: 59 asthmatic and 38 non-asthmatic children were included in the study.