Publications by authors named "Dilek Baser"
Purpose: 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.
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- 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
T cell receptor excision circles (TRECs) and kappa-deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cells that may also represent thymic function. Here, we investigated TREC/KREC copy numbers by quantitative real-time PCR in the peripheral blood of patients with primary immunodeficiencies (PIDs, n = 145) and that of healthy controls (HCs, n = 86) and assessed the correlation between RTEs and TREC copy numbers.
View Article and Find Full Text PDFBackground: 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 PDFBackground/aim: Established reference values are critical for the interpretation of immunologic assessments. In particular, the proportion and absolute counts of T- and B- cell subpopulations are subject to change with age and ethnicity. We aimed to establish age- specific reference values for lymphocyte subsets using updated immunophenotyping panels.
View Article and Find Full Text PDFHyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders could provide early diagnosis and treatment. We analyzed patients (DOCK8 deficiency:14, STAT3-HIES:10, SAD:10) with early-onset SAD.
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- Some parents of kids with a disease called ataxia-telangiectasia (AT) may get sick more often and have health issues similar to their children.
- In a study, researchers compared 20 AT patients and their 31 parents to healthy people and found that the parents had lower immune cell counts and higher rates of infections.
- The parents also showed signs of DNA damage, suggesting that their bodies might not fight infections as well, kind of like their kids with AT.
Background: 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.
Lymphocyte Subset Abnormalities in Pediatric-Onset Common Variable Immunodeficiency.
Int Arch Allergy Immunol
May 2020
Introduction: Common variable immunodeficiency (CVID) is characterized by recurrent infections, autoimmunity, lymphoproliferation, hypogammaglobulinemia, and defective antibody production. In CVID, B-cell abnormalities were described to predict end organ involvement and prognosis. Pediatric-onset CVID is much rarer than adult CVID, and lymphocyte subset abnormalities have not been thoroughly evaluated.
View Article and Find Full Text PDFAbatacept as a Long-Term Targeted Therapy for LRBA Deficiency.
J Allergy Clin Immunol Pract
October 2020
Background: LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of cytotoxic T-lymphocyte-associated antigen 4-immunoglobulin (abatacept) as targeted therapy for its immune dysregulatory features remains to be established.
Objective: To determine the clinical and immunologic features of LRBA deficiency and long-term efficacy of abatacept treatment in controlling the different disease manifestations.