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Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature

Caldirola, Maria Soledad et al · Federation of American Societies for Experimental Biology · 2022

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Author / responsible party
Caldirola, Maria Soledad et al
Publisher
Federation of American Societies for Experimental Biology
Year
2022
ISSN
0741-5400
ISSN
0741-5400
Language
English

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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 and cytotoxic T lymphocytes. This may predispose patients to hemophagocytic lymphohistiocytosis, a life-threatening immune disorder characterized by systemic lymphocyte and macrophage activation, and increased levels of cytokines, which lead to an uncontrolled hyperinflammation state and progressive multiorgan damage. In this review, we will describe a clinical case and recent advances in inborn errors of immunity predisposing to hemophagocytic lymphohistiocytosis. Summary sentence: Review of recent advances in inborn errors of immunity predisposing to hemophagocytic lymphohistiocytosis. Fil: Caldirola, Maria Soledad. Gobierno de la Ciudad de Buenos Aires. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto Multidisciplinario de Investigaciones en Patologías Pediátricas; Argentina Fil: Gómez Raccio, Andrea Cecilia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez". Area de Inmunología. Grupo de Inmunología; Argentina

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APA 7

Caldirola, M. S. E. A. (2022). Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature. http://hdl.handle.net/11336/216536

MLA

Caldirola, Maria Soledad et al. "Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature." 2022. http://hdl.handle.net/11336/216536.

Chicago

Caldirola, Maria Soledad et al. 2022. "Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature.". http://hdl.handle.net/11336/216536.

Harvard

Caldirola, M. S. E. A. 2022, Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature, Federation of American Societies for Experimental Biology, available at: http://hdl.handle.net/11336/216536 [Accessed 7 Aug. 2026].

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Title
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Author / contributors
Caldirola, Maria Soledad et al
Publisher
Federation of American Societies for Experimental Biology
Publication year
2022
ISSN
0741-5400
ISSN
0741-5400
Language
English

Subjects

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EXOCYTOSIS; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HIPERCYTOKINEMIA; INBORN ERRORS OF IMMUNITY; LYTIC GRANULES; https://purl.org/becyt/ford/3.3; https://purl.org/becyt/ford/3
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