We describe the causes of reactive hemophagocytic process in a retrospective study including 99 patients. The main diagnosis were: lymphomas (18 cases), pyogenic bacteria infections (15 cases), herpes virus infections (12 cases), other infections (multiple, parasitic, fungal, mycobacterial, unidentified) (11 cases), acute hepatitis (five cases), systemic lupus erythematosus (three cases). We also found numerous other diseases involving the reticuloendothelial system. The cause remained undetermined in 16 cases. Lymphoma accounted for 64% of the cases in previously healthy patients who had been febrile for more than 10 days at the time of the diagnosis of reactive hemophagocytic process, and for 31% in HIV-positive patients. Lymphomas were rare (5%) in non HIV-positive, immunosuppressed patients. In this setting and in previously healthy patients who had been febrile for less than 10 days, infectious diseases were widely dominant (respectively 60% and 86% of the cases). Those were mainly due to pyogenic bacteria and to herpes virus. A rapidly fatal evolution occurred in some cases of lymphomas-related hemophagocytic process. These data support the choice of aggressive investigations in order to diagnose lymphoma in previously healthy patients presenting with reactive hemophagocytic process who have been febrile for more than 10 days, and in selected HIV-patients. Such a procedure is not recommended in the other cases.
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http://dx.doi.org/10.1016/s0248-8663(97)81959-5 | DOI Listing |
Langerhans cell histiocytosis (LCH), juvenile xanthogranuloma (JXG) family lesions, and Rosai-Dorfman-Destombes disease (RDD) are now classified by the World Health Organization (WHO) under the heading of histiocytic/dendritic cell neoplasms. Each disease may manifest as a focal lesion, as multiple lesions, or as a widespread aggressive systemic disease with visceral organ involvement. Erdheim-Chester disease (ECD) is a rare systemic disease process of adults with limited cases in children.
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January 2025
Department of Pediatrics, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening systemic hyperinflammatory syndrome, rarely associated with bone marrow failure (BMF). Telomere biology disorders (TBD) are caused by inherited defects in telomerase processes and can have heterogeneous presentations including idiopathic pulmonary fibrosis, cirrhosis, and BMF. We report a case of a 10-year-old male from Lima, Peru, who presented with HLH as the initial manifestation of a TBD.
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December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
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November 2024
Department of Hematology/Oncology, New York Presbyterian Brooklyn Methodist, Weill Cornell Medicine, Brooklyn, New York, USA.
Hemophagocytic lymphohistiocytosis is a life-threatening cryptogenic inflammatory process. In some cases, the etiology is obscure, while in others multiple potential etiologies may be present. Diagnosis relies on observed findings rather than context.
View Article and Find Full Text PDFFront Immunol
October 2024
Department of Anatomy, School of Medicine, Pusan National University, Yangsan, Republic of Korea.
UNC13 family (also known as Munc13) proteins are evolutionarily conserved proteins involved in the rapid and regulated secretion of vesicles, including synaptic vesicles and cytotoxic granules. Fast and regulated secretion at the neuronal and immunological synapses requires multiple steps, from the biogenesis of vesicles to membrane fusion, and a complex array of proteins for each step. Defects at these steps can lead to various genetic disorders.
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