Publications by authors named "A Condino-Neto"

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

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Purpose: Calculated globulin (CG, total protein minus albumin levels) correlate well with IgG levels and has been proposed as a suitable screening method for individuals with primary antibody deficiencies (PADs). We aimed to show the correlation of CG with IgG levels in children and adolescents, utilizing a common method for albumin measurement, bromocresol green.

Methods: Individuals from two Allergy and Immunology clinics were invited to participate.

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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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Article Synopsis
  • ISG15 deficiency is a rare inherited syndrome that leads to frequent infections by less harmful mycobacteria and interferon-related issues, and this study focuses on two unrelated Brazilian patients sharing the same genetic mutation in the ISG15 gene.
  • Assessments revealed both patients had low production of IFN-γ and distinct clinical symptoms, impacting their immune response and leading to both infectious and neurological manifestations.
  • The researchers identified a specific mutation (c.83 T > A) that destabilizes the ISG15 protein, along with a significant number of differentially expressed genes linked to immune pathways, marking the first documentation of these cases in Brazil.
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