Publications by authors named "F Espinosa-Rosales"

Purpose: Immunoglobulin replacement therapy remains a cornerstone of treatment in antibody deficiencies and other inborn errors of immunity. While patient preferences between subcutaneous and intravenous immunoglobulin have been studied through questionnaires, no study has yet explored patient perspectives in a free environment. Therefore, we aimed to conduct a sentiment analysis as well as a temporal and geographical analysis on public opinions obtained from social media to better understand patient satisfaction and public perception on immunoglobulin therapy.

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Purpose - The Latin American Society of Immunodeficiencies (LASID) Registry was established in 2009 to collect data on Inborn Errors of Immunity (IEI) patients in the region. Although several reports have been published regarding LASID data, this is the first report of the entire dataset. Methods - The European Society of Immunodeficiencies (ESID) donated the online platform in 2008.

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Purpose: Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by pathogenic variants of genes encoding the enzyme complex NADPH oxidase. In countries where tuberculosis (TB) is endemic and the Bacillus Calmette-Guérin (BCG) vaccine is routinely administered, mycobacteria are major disease-causing pathogens in CGD. However, information on the clinical evolution and treatment of mycobacterial diseases in patients with CGD is limited.

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Introduction: Chronic granulomatous disease (CGD) is an inborn error of immunity, characterized by abnormal susceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene are transmitted in an X-linked pattern of inheritance; while the pathogenic variants present in the EROS, NCF1, NCF2, NCF4, or CYBA genes are transmitted with an autosomal recessive inheritance pattern.

Objetives: To describe the clinical, immunological, and genetic characteristics of two patients with CGD and BCG infection.

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Article Synopsis
  • Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder that weakens the immune response to mycobacteria and can lead to severe infections, even in healthy individuals.
  • A study in Mexico reviewed 22 MSMD patients from 2006 to 2021, revealing that 70% developed infections after receiving the BCG vaccine, with some also suffering from other bacterial and fungal infections.
  • Genetic analysis showed 13 variants in genes associated with MSMD, primarily in IL12RB1, indicating that deficiencies in this gene are the main cause of the condition in the patients studied.
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