Publications by authors named "Esra Hazar"
Variable clinical presentation of hypomorphic DCLRE1C deficiency from childhood to adulthood.
Pediatr Allergy Immunol
October 2024
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).
Background: Chronic granulomatous disease (CGD), one of the phagocytic cell defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex in neutrophils.
Methods: The clinical, demographic and laboratory findings of 17 CGD patients who were followed-up between 2002 and 2021 were obtained retrospectively from the records of the patients.
Results: The number of male and female patients was 10/7.
Objective: In this study, we explored the expression of transcription factors, cytokines, and co-stimulatory molecules within the helper T (Th) cell subsets (Th1, Th2, Th17, and Treg) of patients with hypomorphic DCLRE1C gene mutations.
Methods: The study comprised eight patients and five controls. Transcription factor and cytokine expressions of Th subsets and co-stimulatory molecules were investigated by qPCR and flow cytometric following T cell stimulation.
Background: Immune dysregulation as a result of an inborn error of immunity (IEI) leads to the complicated symptoms of refractory multi-organ immune dysregulation. B lymphocytes with immune regulatory capacity (Breg) are activated by environmental triggers and act as regulators of the immune response as observed in several autoimmune diseases.
Objective: We sought to investigate the Breg profile and the CD21 expressing B cells of patients with LRBA deficiency (N = 6) and non-LRBA deficiency IEI (N = 13) with overlapping clinical symptoms of immune dysregulation.
Purpose: The aim was to review the compliance, side effects and effectiveness of subcutaneous immunoglobulin (SCIG) supplementation in patients with primary immunodeficiencies (PID) who had previously received intravenous immunoglobulin (IVIG) therapy and subsequently switched to SCIG, as well as to compare these parameters in patients while considering body weight.
Methods: Demographic data, clinical and laboratory findings, SCIG dose, and side effects of 87 patients were retrospectively obtained from patient files. In patients who first received IVIG and then SCIG, the monthly SCIG dose was calculated by multiplying the IVIG dose by 1.