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

CALDIROLA MS; GÓMEZ RACCIO A; DI GIOVANNI D; GAILLARD, M.; MARIA VICTORIA PRECIADO

JOURNAL OF LEUKOCYTE BIOLOGY

FEDERATION AMER SOC EXP BIOL

Lugar: Bethesda; Año: 2022

0741-5400

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 multi-organ damage. In this review, we will describe a clinical case and recent advances in inborn errors of immunity predisposing to hemophagocytic lymphohistiocytosis.