Kleopatra Spanou

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Various polymorphisms in cytokine genes have recently been investigated as candidate risk factors in allogeneic hematopoetic stem cell transplantation (allo-HSCT). We retrospectively analyzed specific polymorphisms in genes for interleukin (IL)-10, IL-6, tumor-necrosis factor alpha (TNF-α) and interferon gamma (IFN-γ) in a pediatric cohort of 57(More)
Primary Immunodeficiencies (PID) represent a group of heterogeneous immune diseases with important biological significance. We reviewed the records of children diagnosed with PID in the Referral Center for PID in our country in order to describe the epidemiological, clinical and laboratory characteristics of immunodeficient patients. During a 30-year(More)
Chronic Granulomatous Disease (CGD) is an uncommon primary immunodeficiency caused by the absence or dysfunction of one of NADPH oxidase subunits, with heterogeneous genetic aetiologies. The aim of this study was the CGD patient registry in Greece, the identification of the responsible genotype and the potential correlation with the patient’s clinical(More)
BACKGROUND Celiac disease (CD) has been associated with HLA class II heterodimers. This study aimed at determining the HLA genotypic and allelic distribution in Greek children with CD as compared with the general population. METHODS A total of 118 children with CD and 120 healthy individuals serving as controls were included in the study. RESULTS Higher(More)
Serum levels of immunoglobulin E (IgE) were determined by enzyme immunoassay in 414 Greek infants and children of both sexes, 1 month to 14 years old. The children were admitted to the "Aghia Sophia" Teaching Hospital for Children (Athens, Greece) for surgical corrections of minor anatomic abnormalities, but they were otherwise healthy. Statistical analysis(More)
Celiac disease is a complex chronic immune-mediated disorder of the small intestine. Today, the pathobiology of the disease is unclear, perplexing differential diagnosis, patient stratification, and decision-making in the clinic. Herein, we adopted a next-generation sequencing approach in a celiac disease trio of Greek descent to identify all genomic(More)
We report on a 22-year-old girl with a history of recurrent febrile episodes, chronic arthritis, urticarial rash, and neurological symptoms including right hemiparesis, internal hydrocephalus, mental retardation, progressive deafness, and visual impairment. Treatment starting at age 20 months, including different combinations of immunosuppressive and(More)
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