Hemophagocytic Lymphohistiocytosis

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:disease
gptkbp:abbreviation	gptkb:HLH
gptkbp:affects	immune system hematopoietic system
gptkbp:alternativeName	gptkb:familial_hemophagocytic_lymphohistiocytosis hemophagocytic syndrome
gptkbp:associatedWith	gptkb:PRF1 STX11 STXBP2 UNC13D
gptkbp:causedBy	gptkb:autoimmune_disease gptkb:genetic_disorder infection malignancy
gptkbp:complication	gptkb:death multi-organ failure
gptkbp:firstDescribed	1952
gptkbp:hasDiagnosticMethod	bone marrow biopsy triglyceride level ferritin level fibrinogen level soluble IL-2 receptor
gptkbp:hasOrphanetID	ORPHA:399
gptkbp:hasRelatedCondition	gptkb:macrophage_activation_syndrome
gptkbp:ICD-10_code	D76.1
gptkbp:inheritance	autosomal recessive
gptkbp:mortalityRate	high
gptkbp:OMIM	267700
gptkbp:onset	childhood adulthood
gptkbp:pathology	gptkb:cytokine_storm uncontrolled immune activation
gptkbp:prevalence	rare
gptkbp:prognosis	poor without treatment
gptkbp:subspecies	primary HLH secondary HLH
gptkbp:symptom	fever enlarged liver enlarged spleen rash lymphadenopathy neurological symptoms pancytopenia
gptkbp:treatment	chemotherapy immunosuppressive therapy hematopoietic stem cell transplantation
gptkbp:bfsParent	gptkb:HLH
gptkbp:bfsLayer	8
https://www.w3.org/2000/01/rdf-schema#label	Hemophagocytic Lymphohistiocytosis