Publications by authors named "S Bilgic Eltan"
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.
Purpose: Deficiency of stromal interaction molecule 1 (STIM1) results in combined immunodeficiency accompanied by extra-immunological findings like enamel defects and myopathy. We here studied a patient with a STIM1 loss-of-function mutation who presented with severe lymphoproliferation. We sought to explore the efficacy of the mTOR inhibitor rapamycin in controlling disease manifestations and reversing aberrant T-cell subsets and functions, which has never been used previously in this disorder.
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- * The research involved comparing height, weight, and nutrition-related blood markers in children with CMA or multiple food allergies to healthy controls, using a detailed food intake log for analysis.
- * Findings indicated that children with CMA and multiple food allergies had lower growth measures and nutritional intake, along with low blood calcium and high parathyroid hormone levels, pointing to potential bone health issues.
Background: Dedicator of cytokinesis 8 (DOCK8)-deficient patients have severe eczema, elevated IgE, and eosinophilia, features of atopic dermatitis (AD).
Objective: We sought to understand the mechanisms of eczema in DOCK8 deficiency.
Methods: Skin biopsy samples were characterized by histology, immunofluorescence microscopy, and gene expression.