Publications by authors named "Ezgi Yalcin Gungoren"
Article Synopsis
- STAT3 gain-of-function disease causes issues like immune system overactivity and growth problems, but long-term treatment with the JAK inhibitor ruxolitinib has shown promise in symptom relief.
- The study monitored clinical and immune responses of four patients over a year, noting significant changes in T cell populations and the normalization of blood cell profiles, which were previously dysregulated.
- Ruxolitinib treatment not only managed symptoms but also modified harmful immune cell characteristics and reduced certain auto-reactive T-cell clones, suggesting a potential pathway to better control the disease's impact.
Article Synopsis
- * A study involving 22 patients post-thymectomy indicated significant long-term immunological changes, such as lymphopenia, reduced naive T cell counts, and low immunoglobulin levels, pointing to early immune aging.
- * Despite these changes, most patients still showed positive vaccine responses, but the findings suggest a need for preserving thymic tissue during surgery and increased monitoring for immune-related complications over time.
Article Synopsis
- IPEX is a rare autoimmune disorder caused by FOXP3 variants, presenting diverse symptoms like early-onset diabetes, eczema, and enteropathy, creating challenges in diagnosis and management.
- A study of 12 IPEX patients analyzed clinical features and immunological characteristics, revealing a distinction between classical and atypical cases, with atypical patients showing more allergic symptoms and severe chronic diarrhea.
- Most patients were treated with immunosuppressants or underwent hematopoietic stem cell transplantation, with HSCT showing the most effective long-term control of symptoms, and sirolimus providing better outcomes than other immunosuppressants.
Article Synopsis
- Immunoglobulin G replacement therapy (IgRT) is critical for treating primary immunodeficiencies (PID), and a new method called facilitated subcutaneous immunoglobulin (fSCIG) combines the benefits of intravenous and subcutaneous treatments.
- A study was conducted with 29 PID patients to assess the efficacy, safety, and patient satisfaction of fSCIG over 12 months, finding it generally effective with some mild and local adverse reactions.
- Results showed that while no severe reactions were reported and targeted IgG levels were achieved, patient satisfaction significantly increased over time, supporting the use of fSCIG despite some localized side effects.
Background: Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.
Methods: The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between 2013 and 2023 were collected retrospectively.
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.
View Article and Find Full Text PDFPurpose: Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive combined immunodeficiency. The detailed immune responses are not explored widely. We investigated known and novel immune alterations in lymphocyte subpopulations and their association with clinical symptoms in a well-defined ICF cohort.
View Article and Find Full Text PDFPrimary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients.
View Article and Find Full Text PDFBackground: Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS-CoV-2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID-19 outcomes.
Methods: We studied 34 IEI patients (19M/15F, 12 [min: 0.