Publications by authors named "Hulya Kose"
The clinical picture of the TCF3 deficiency may manifest differently from neutropenia to antibody production defects.
View Article and Find Full Text PDFA rare disease with many faces: A multicenter registry of IgG4-related disease in children.
Rheumatology (Oxford)
September 2024
Objectives: We aimed to report the characteristics of pediatric IgG4-related disease (IgG4-RD) through a multicentre registry, to assess disease clusters, and to evaluate the performances of the 2019 American College of Rheumatology and European League Against Rheumatism (ACR/EULAR) classification criteria and the 2020 revised comprehensive diagnostic (RCD) criteria in this cohort.
Methods: Data of IgG4-RD patients in 13 pediatric rheumatology centers were recorded to a web-based registration system. The diagnosis of IgG4-RD was made according to the 2011 comprehensive diagnostic criteria.
Article Synopsis
- * A study conducted whole-exome sequencing (WES) on 303 IEI patients in Türkiye, achieving likely genetic diagnoses for 41.1% and discovering 52 novel variants, as well as new potential IEI genes in six patients.
- * The findings emphasize the importance of cross-cohort outcomes in IEI research and aim to enhance collaboration between clinical and scientific communities.
Objectives: Juvenile scleroderma is a heterogeneous group of diseases associated with sclerotic skin lesions, grouped as juvenile systemic sclerosis and juvenile localized scleroderma. This study aims to measure the cytokine and chemokine levels involved in interferon (IFN) signalling in patients with juvenile scleroderma and determine their correlation with disease severity.
Methods: Twenty-nine juvenile localized scleroderma, five juvenile systemic sclerosis, and nine healthy controls were included in the study.
Background: The H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.
Methods: A mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.
Neurological involvement in patients with primary immunodeficiency.
Allergol Immunopathol (Madr)
January 2024
Article Synopsis
- - Primary immunodeficiency diseases (PID) are associated with recurrent infections and can significantly impact neurological health, with conditions like Ataxia-Telangiectasia, Nijmegen breakage syndrome, and PNP deficiency demonstrating direct neurological involvement.
- - A study analyzed 108 PID patients and found that the median age for neurological issues was 7 years, with Di George Syndrome and common variable immunodeficiency being the most prevalent.
- - The results revealed that 99% of patients had central nervous system involvement, with cognitive delays, epilepsy, and ataxia being common outcomes; MRI scans of the brain showed abnormalities in 74% of the patients, highlighting various neurological disorders.
Objective: To evaluate the safety of canakinumab using real-world data in patients with systemic juvenile idiopathic arthritis (sJIA) and autoinflammatory diseases (AID).
Research Design And Methods: This was a cross-sectional observational, multicenter study. Patients diagnosed with AID and sJIA treated with canakinumab were included in the study.
Article Synopsis
- The study focuses on distinguishing between autosomal recessive DOCK8 and autosomal dominant STAT3 deficiencies, which present symptoms similar to atopic dermatitis (AD), highlighting the need for early diagnosis.
- It assessed 100 patients, collecting data on skin manifestations, infections, and allergies, using principal component analysis to differentiate between the disorders and AD.
- Findings reveal specific atypical eczema and immune cell profiles in DOCK8 and STAT3 patients that effectively separate these conditions from AD, aiding clinicians in making timely diagnoses.
Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated.
View Article and Find Full Text PDFBackground: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis.
Methods: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region.