" /> Hemophagocytic lymphohistiocytosis, familial, 4 - CISMeF





Preferred Label : Hemophagocytic lymphohistiocytosis, familial, 4;

Symbol : FHL4;

CISMeF acronym : FHL4; HLH4; HPLH4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HLH4; HPLH4;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the syntaxin 11 gene (STX11, 605014.0001);

Neoplasia : Increased risk of myelodysplastic syndrome or leukemia (in some patients);

Laboratory abnormalities : Decreased fibrinogen; Increased ferritin; Increased soluble IL2 receptor; Increased triglycerides;

Prefixed ID : #603552;

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19/09/2021


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