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X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.
Pediatr Blood Cancer
February 2025
Pediatric Hematology and Oncology, Mayo Clinic, Rochester, Minnesota, USA.
Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.
Nat Commun
November 2024
Université Paris Cité, CNRS, Inserm, Institut Cochin, F-75014, Paris, France.
Most autoinflammatory diseases are caused by mutations in innate immunity genes. Previously, four variants in the RHO GTPase CDC42 were discovered in patients affected by syndromes generally characterized by neonatal-onset of cytopenia and auto-inflammation, including hemophagocytic lymphohistiocytosis and rash in the most severe form (NOCARH syndrome). However, the mechanisms responsible for these phenotypes remain largely elusive.
View Article and Find Full Text PDFAn insight into neonatal hemophagocytic lymphohistiocytosis from a clinician's perspective.
Int J Rheum Dis
October 2024
Department of Paediatric Medicine, Dr B C Roy Post Graduate Institute of Paediatric Sciences, Kolkata, West Bengal, India.
Hemophagocytic Lymphohistiocytosis Triggered by Herpes Simplex Virus 1 and 2: A Narrative Review.
Hematol Rep
July 2024
Department of Internal Medicine, University Hospital of Heraklion, 71500 Heraklion, Greece.
: Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening syndrome characterized by an uncontrolled hyperinflammatory reaction. HLH is classified into primary (familial) and secondary (acquired). Secondary HLH is commonly triggered by infections, with viral infections being a leading cause.
View Article and Find Full Text PDFInborn Errors of Immunity in Early Childhood: Essential Insights for the Neonatologist.
Neonatology
October 2024
Department of Pediatrics, University Hospital Würzburg, Würzburg, Germany.
Background: Inborn errors of immunity (IEI), formerly referred to as primary immunodeficiencies, manifest with a wide range of symptoms such as increased susceptibility to infections, immune dysregulation, and autoinflammation. Although most cases manifest in childhood, onset during the neonatal period is rare but potentially critical.
Summary: In this review, we discuss the diverse clinical presentations of IEI and the specific challenges they pose to neonatologists.
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