Hemophagocytic lymphohistiocytosis resulting from a cytokine storm triggered by septicemia in a child with chronic granuloma disease: a case report and literature review

Abstract

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially fatal illness characterized by impaired natural killer and cytotoxic T cell function. Chronic granulomatous disease (CGD) is an inherited immune deficiency caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. CGD patients display an increased susceptibility to infection with bacteria and fungi. Repeated infections lead to an increased risk for developing HLH. The case of CGD with repeated Salmonella septicemia complicated with HLH is very rare, and the CGD mutation identified has not been reported. Case presentation: A 3-year-old boy was admitted to our hospital for fever, hepatosplenomegaly and pancytopenia. According to the clinical manifestations and laboratory results, hemophagocytic lymphohistiocytosis (HLH) was diagnosed. Blood and bone marrow culture confirmed septicemia due to Salmonella Typhimurium. On the basis of antiinfection treatment, methylprednisolone was used to control HLH. After treatment, the clinical symptoms and laboratory results improved. Gene analysis showed a novel hemizygous CYBB gene mutation: c.302A > G (p.H101P). Combined with a past history of recurrent infection, the child was diagnosed with HLH secondary to CGD triggered by septicemia. Conclusions: In case of a known (or highly suspected) CGD with a documented infection, clinical or biological features of HLH should encourage the physician to make possible to confirm or not the HLH. Therefore, to initiate the adequate treatment in association with anti-infective therapy.

Case Report: Ceftriaxone-Resistant Invasive Salmonella Enteritidis Infection with Secondary Hemophagocytic Lymphohistiocytosis: A Contrast with Enteric Fever

“…An old French language report and a recent Chinese report describe HLH in association with invasive S. Typhimurium infection in children with chronic granulomatous disease (CGD). 11,12 The real trigger, in this case, may be debatable, as CGD, in itself, is known to get complicated with HLH. 12,13 Our child did not have any clinical or laboratory evidence suggestive of inborn error of immunity.…”

“…11,12 The real trigger, in this case, may be debatable, as CGD, in itself, is known to get complicated with HLH. 12,13 Our child did not have any clinical or laboratory evidence suggestive of inborn error of immunity. A recent Turkish report also describes invasive S. Typhimurium infection in an apparently immunocompetent child.…”

Identification of peptides from protease‐fermented milk protein and immunomodulatory effect in vivo against lipopolysaccharide‐induced inflammation

“…Inflammation is involved in the pathogenesis of many chronic diseases, such as rheumatoid arthritis, sepsis and cancer (Wei et al ., 2020), while immune responses are regulated by immune cells and inflammatory factors. Lipopolysaccharide (LPS) is the main component on the cell wall of gram‐negative bacteria, which causes inflammatory response, and antibiotics are generally utilised for the treatment.…”

Doença granulomatosa crônica: caracterização clínica, genética e imunológica de pacientes com susceptibilidade a infecções e hiperinflamação

“…Uma alta incidência de infecções acompanhada por uma resposta hiperinflamatória imprópria pode oferecer riscos de desenvolvimento de linfohistiocitose hemofagocítica (HLH)/síndrome de ativação macrofágica (MAS) a esses pacientes com DGC (Álvarez- Wei et al, 2020). Organismos comuns e incomuns encontrados em pacientes com DGC foram listados na Tabela 1.…”