Publications by authors named "M Sobotkova"

Article Synopsis
  • Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a dangerous condition causing repeated swelling, and a study analyzed genetic defects in 207 Czech patients to understand it better.
  • Researchers used advanced techniques to identify a total of 56 genetic variants linked to the condition, including 5 new variants that likely cause the disease.
  • The findings showed a higher rate of splicing variants compared to other populations, revealed connections between certain genetic variants and disease characteristics, and emphasized the need for thorough genetic screening for better diagnosis and treatment of C1-INH-HAE.
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Castleman disease (CD) is a heterogeneous group of diseases characterized by lymphadenopathy and systemic inflammatory manifestations. CD can be divided into uni- (UCD) and multicentric form (MCD) according to the disease extent. MCD is usually accompanied by the features of a systemic inflammatory response including fever, weight loss, hepatosplenomegaly, ascites, and edema.

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Hereditary angioedema (HAE) is a rare genetic disorder with variable expressivity even in carriers of the same underlying genetic defect, suggesting other genetic and epigenetic factors participate in modifying HAE severity. Recent knowledge indicates the role of immune cells in several aspects of HAE pathogenesis, which makes monocytes and macrophages candidates to mediate these effects. Here we combined a search for HAE phenotype modifying gene variants with the characterization of selected genes' mRNA levels in monocyte and macrophages in a symptom-free period.

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Despite the progress in the understanding how COVID-19 infection may impact immunocompromised patients, the data on inborn errors of immunity (IEI) remain limited and ambiguous. Therefore, we examined the risk of severe infection course and hospital admission in a large cohort of patients with IEI. In this multicenter nationwide retrospective survey-based trial, the demographic, clinical, and laboratory data were collected by investigating physicians from 8 national referral centers for the diagnosis and treatment of IEI using a COVID-19-IEI clinical questionnaire.

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