familial hemophagocytic lymphohistiocytosis
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
immunodeficiency autosomal recessive disease |
| gptkbp:affects |
immune system
|
| gptkbp:alternativeName |
gptkb:FHL
familial HLH |
| gptkbp:causedBy |
PRF1 gene mutation
STX11 gene mutation STXBP2 gene mutation UNC13D gene mutation |
| gptkbp:complication |
multi-organ failure
neurological symptoms |
| gptkbp:firstDescribed |
1952
|
| gptkbp:hasOrphanetID |
ORPHA:33747
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial hemophagocytic lymphohistiocytosis
|
| gptkbp:ICD-10_code |
D76.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
267700
|
| gptkbp:onset |
childhood
|
| gptkbp:pathology |
defective cytotoxic function of NK and T cells
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
fever
hepatosplenomegaly lymphadenopathy coagulopathy cytopenia hyperferritinemia |
| gptkbp:treatment |
immunosuppressive therapy
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:perforin
|
| gptkbp:bfsLayer |
6
|