Publications by authors named "Mahmut Cesur"
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.
View Article and Find Full Text PDFAllergic reactions to enzyme replacement therapy in children with lysosomal storage diseases and their management.
J Pediatr Endocrinol Metab
October 2024
Article Synopsis
- 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.
A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome.
Iran J Allergy Asthma Immunol
September 2023
Article Synopsis
- Mutations in the SLC29A3 gene are responsible for histiocytosis-lymphadenopathy plus (H) syndrome, a rare genetic condition that affects multiple organ systems.
- A case study of a 7-year-old Syrian patient reveals that treatment did not successfully reduce inflammation, highlighting the complexity of managing H syndrome.
- Early genetic testing and increased awareness among doctors are crucial for accurate diagnosis and effective treatment of H syndrome, as it presents a wide range of symptoms that may be mistaken for autoimmune diseases.
This study was planned to evaluate bone health in patients with hereditary spherocytosis. In this prospective study, a total of 30 hereditary spherocytosis patients which followed in the Pediatric Hematology and Oncology Department of KSU Medical Faculty and 30 patients for control group were included. Patient and control group were chosen equal in age and sex.
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