Publications by authors named "I Reisli"
Purpose: The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye.
Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department.
Article Synopsis
- The study focuses on long-term follow-up of 18 pediatric and adult patients with hypomorphic DCLRE1C mutations diagnosed with leaky severe combined immunodeficiency (SCID).
- Common clinical manifestations included recurrent infections, skin issues, autoimmune diseases, and malignancy, with a significant number of patients showing low immunoglobulin levels and T/B-cell lymphopenia.
- Findings suggested a dominant Th1 immune response, with elevated IFN-γ and T cells contributing to chronic inflammation and autoimmunity, emphasizing the need for ongoing patient monitoring post-hematopoietic stem cell transplantation (HSCT).
Article Synopsis
- ICF syndrome is a rare, autosomal recessive disease linked to mutations in specific genes (DNMT3B, ZBTB24, CDCA7, HELLS) that lead to immune deficiencies and facial anomalies.
- This study examined the expression of transcription factors and cytokines in various helper T cell subsets from ICF patients and found significant reductions in these factors compared to healthy controls.
- It also identified a novel mutation in the ZBTB24 gene related to ICF2 syndrome, marking the first molecular investigation of T cell subsets in ICF syndrome.
MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort.
J Allergy Clin Immunol Pract
September 2024
Background: Major histocompatibility complex class II deficiency, a combined immunodeficiency, results from loss of HLA class II expression on antigen-presenting cells. Currently, hematopoietic stem cell transplantation stands as the sole curative approach, although factors influencing patient outcomes remain insufficiently explored.
Objectives: To elucidate the clinical, immunologic, and genetic profiles associated with MHC-II deficiency and identify prognostic indicators that affect survival rates.