Publications by authors named "Luis Allende Martinez"

Patients on hemodialysis show dysregulated immunity, basal hyperinflammation and a marked vulnerability to COVID-19. We evaluated the immune profile in COVID-19 hemodialysis patients and the changes associated with clinical deterioration after the hemodialysis session. Recruited patients included eight hemodialysis subjects with active, PCR-confirmed SARS-CoV-2 infection, five uninfected hemodialysis patients and five healthy controls.

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Autoimmune lymphoproliferative syndrome is a primary immunodeficiency caused by variants in FAS-mediated apoptosis related genes and is characterized by lymphadenopathy, splenomegaly and autoimmunity. A total of six different variants in CASP10 have been described as potential causative of disease, although two of them have recently been considered polymorphisms. The high allele frequency of these variants in healthy population in addition to the broad clinical spectrum of the disease difficult the interpretation of their pathogenicity.

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Article Synopsis
  • Early and accurate diagnosis of primary immunodeficiencies (PIDs) significantly improves clinical outcomes, yet they are often overlooked until severe symptoms occur.
  • Incorporating PIDs into nationwide newborn screening could enhance survival rates and disease management by identifying biomarkers in dried blood samples.
  • A new multiplex protein profiling method allows for the diagnosis of 22 specific immunodeficiencies using small blood samples, offering a scalable solution validated through retrospective patient screening.
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Severe combined immunodeficiency can cause severe, life-threatening viral, bacterial and fungal infections at an early age. We report a case of a 4-month-old boy with co-infection by respiratory syncytial virus and Pneumocystis jiroveci infection that led to recognition of severe combined immunodeficiency.

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