Publications by authors named "Gamze Akgun"
Article Synopsis
- LRBA deficiency and CTLA-4 insufficiency are disorders linked to increased infection risk, autoimmune issues, and abnormal cell growth, but they have different clinical aspects and long-term outcomes.
- A study evaluated 29 LRBA-deficient and 12 CTLA-4-insufficient patients, revealing that LRBA-deficient patients experience earlier symptoms, more pneumonia, and chronic diarrhea, whereas CTLA-4 patients had a better survival rate.
- Flow cytometry was used to assess T-cell responses, showing unique patterns between the two conditions—LRBA deficiency had diminished CTLA-4 expression but showed improvement after T-cell stimulation, while CTLA-4 insufficiency had less response, indicating differences in immune dysfunction.
Article Synopsis
- - The study investigates severe combined immunodeficiency (SCID), a critical immune deficiency, analyzing 54 SCID patients to understand their clinical presentations, infections, and post-transplant outcomes after hematopoietic stem cell transplantation (HSCT).
- - Results show a median diagnosis age of 5 months, with T-B-NK+ being the most common SCID phenotype; overall survival rate post-HSCT was 83.3%, notably higher than non-transplanted patients, influenced by factors like genetic mutations and donor matching.
- - The findings suggest that specific transplant techniques and conditioning regimens enhance immune reconstitution, and post-transplant T cell receptor diversity appeared similar to that of healthy individuals, although some patients did
Background: Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.
View Article and Find Full Text PDFComplement hyperactivation, angiopathic thrombosis and protein-losing enteropathy (CHAPLE disease) is a lethal disease caused by genetic loss of the complement regulatory protein CD55, leading to overactivation of complement and innate immunity together with immunodeficiency due to immunoglobulin wasting in the intestine. We report in vivo human data accumulated using the complement C5 inhibitor eculizumab for the medical treatment of patients with CHAPLE disease. We observed cessation of gastrointestinal pathology together with restoration of normal immunity and metabolism.
View Article and Find Full Text PDFBackground: Chronic granulomatous disease (CGD) is characterized by defective microbial killing due to mutations affecting subunits of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. Definitive genetic identification of disease subtypes may be delayed or not readily available.
Objective: Sought to investigate the role of intracellular staining of NADPH oxidase enzyme subunits in predicting the respective genetic defects in patients with CGD and carriers.