Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-1694778
Abstract: Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features… read more here.
Keywords: lymphohistiocytosis rare; familial hemophagocytic; hemophagocytic lymphohistiocytosis; rare mutation ... See more keywords
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001681
Abstract: We have experienced 3 consecutive cases of familial hemophagocytic lymphohistiocytosis (FHL). All affected infants had mutations in exon 3 of the perforin gene. The first had a homozygous mutation, c.1168C>T (p.R390*), caused by maternal uniparental… read more here.
Keywords: familial hemophagocytic; maternal uniparental; hemophagocytic lymphohistiocytosis; cases familial ... See more keywords
Neonatal COVID and Familial Hemophagocytic Lymphohistiocytosis
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Emergency Care"
DOI: 10.1097/pec.0000000000002643
Abstract: To the Editors: C hildren with inflammatory syndromes often present with vague and nonspecific symptomatology that pose diagnostic and management challenges to emergency care physicians. The initial hours of management is critical because it determines… read more here.
Keywords: symptomatology; lymphohistiocytosis; neonatal covid; hemophagocytic lymphohistiocytosis ... See more keywords
Familial hemophagocytic lymphohistiocytosis hepatitis is mediated by IFN-γ in a predominantly hepatic-intrinsic manner
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DOI: 10.1371/journal.pone.0269553
Abstract: Interferon gamma (IFN-γ) is the main cytokine driving organ dysfunction in Familial Hemophagocytic Lymphohistiocytosis (FHL). Blockade of IFN-γ pathway ameliorates FHL hepatitis, both in animal models and in humans with FHL. Hepatocytes are known to… read more here.
Keywords: hemophagocytic lymphohistiocytosis; ifn; hepatitis; familial hemophagocytic ... See more keywords
Germline Compound Heterozygous Variants Identified in the STXBP2 Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report
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DOI: 10.3389/fped.2021.633996
Abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, potentially fatal autosomal-recessive immunodeficiency, and STXBP2 mutations have been associated with FHL type 5 (FHL-5). Here, we report a case of a 2-year-old boy who presented with recurrent… read more here.
Keywords: familial hemophagocytic; hemophagocytic lymphohistiocytosis; compound; compound heterozygous ... See more keywords
Presentations and outcomes of familial hemophagocytic lymphohistiocytosis in the pediatric intensive care units (PICUs)
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DOI: 10.3389/fped.2023.1152409
Abstract: Objectives We aimed to describe Familial Hemophagocytic Lymphohistiocytosis (F-HLH) patients' clinical features, intensive care courses, and outcomes. Methods Multi-center retrospective cohort study of pediatric patients diagnosed with F-HLH from 2015 to 2020 in five tertiary… read more here.
Keywords: hlh; intensive care; hemophagocytic lymphohistiocytosis; care ... See more keywords