Publications by authors named "Demet Hafızoglu"
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
- Inflammatory bowel disease (IBD) is defined as very early-onset IBD (VEO-IBD) when it occurs before the age of six, often resulting in severe and resistant inflammation.
- A case report is presented of a 4-year-old girl with symptoms such as bloody diarrhea, vomiting, abdominal pain, and joint issues, leading to the suspicion of monogenic primary immunodeficiency (PID).
- Genetic analysis revealed a mutation related to ICOS deficiency, highlighting the connection between IBD progression and this specific immunodeficiency.
Background: Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin.
Purpose: To evaluate CNS variations and abnormalities in AED.
Material And Methods: A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age = 8 years; age range = 2-14 years) diagnosed with AED in our pediatric clinics during 2008-2016.
Purpose: Primary immunodeficiency diseases (PIDs) are inherited disorders of the immune system resulting in increased susceptibility to unusual infections and predisposition to autoimmunity and malignancies. The European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This study aimed to provide a minimum estimate of the prevalence of each disorder and to determine the clinical characteristics and outcomes of patients with PID in Turkey.
View Article and Find Full Text PDFMendelian susceptibility to mycobacterial diseases (MSMD) is a rare syndrome characterized by predisposition to severe, sometimes lethal, disease caused by otherwise poorly virulent mycobacteria. We report here a boy with a recurrent mycobacterial infection from the age of five months. Immunological analyses revealed an inability to respond to IFN-γ, subsequent genetic analyses revealed a novel homozygous mutation, r.
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