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Review
. 2022 Oct;112(4):607-615.
doi: 10.1002/JLB.5MR0622-037R. Epub 2022 Jul 28.

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

María Soledad Caldirola  1 , Andrea Gómez Raccio  2 , Daniela Di Giovanni  2 , María Isabel Gaillard  1   3 , María Victoria Preciado  4
Affiliations
Review

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

María Soledad Caldirola et al. J Leukoc Biol. 2022 Oct.

Abstract

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.

Keywords: exocytosis; hemophagocytic lymphohistiocytosis; hipercytokinemia; inborn errors of immunity; lytic granules.

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References

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