Article
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature.
Journal of leukocyte biology - 1 Oct 2022
Caldirola María Soledad, Raccio Andrea Gómez, Giovanni Daniela Di, Gaillard María Isabel, Preciado María Victoria
Abstract excerpt
Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, allergy and malignancies. In this regard, mutations that affect proteins involved in trafficking, priming, docking, or membrane fusion will impair the exocytosis of lytic granules of effector NK...
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