Publications by authors named "Ildiko Csurke"
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 () gene. Acid sphingomyelinase deficiency is characterized by a spectrum of disease and is broadly divided into three types (ASMD type A, ASMD type A/B, and ASMD type B). More than 220 disease-associated variants have been reported, and genotype/phenotype correlations are limited.
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- The J Project (JP) is a collaborative program aimed at improving physician education and clinical research on inborn errors of immunity (IEI), established in 2004 and currently spanning 32 countries, primarily in Eastern and Central Europe.
- By the end of 2021, JP organized 344 meetings to enhance awareness and improve diagnosis and treatment for patients with IEI, with a significant increase in annual meetings over the years.
- Data from patient reports across 30 countries indicated a prevalence of 4.9 patients per population, mostly featuring patients with predominantly antibody deficiency, along with a strong commitment to treatments like immunoglobulin substitution and hematopoietic stem cell therapy.
The -gene-related neurodevelopmental disorder Helsmoortel-Van der Aa syndrome is a rare syndromic-intellectual disability-an autism spectrum disorder first described by Helsmoortel and Van der Aa in 2014. Recently, a large cohort including 78 patients and their detailed phenotypes were presented by Van Dijck et al., 2019, who reported developmental delay, speech delay and autism spectrum disorder as nearly constant findings with or without variable cardiological, gastroenterological, urogenital, endocrine and neurological manifestations.
View Article and Find Full Text PDFPurpose: To assess the efficacy, pharmacokinetics, and safety of a new, highly purified 10% IVIg (BT595, Yimmugo) administered in children with PID.
Methods: This was an open-label, prospective, uncontrolled, multicenter Phase III pivotal trial. Among the 67 subjects in the trial were 18 pediatric patients aged 2 to 17 years with diagnosis of PID included in this analysis.