| Familial hemophagocytic lymphohistiocytosis 4 |
anemia; ataxia; blindness; convulsions; cranial nerve palsy; cytopenia; decreased NK cell activity; decreased in CTL activity; edema; fever; generalized aches and pains; hemiplegia; tetraplegia; hepatosplenomegaly; high fever; hypertonia; hypotonia; irritability; lymph node enlargement; neck stiffness; bulging fontanel; severe inflammation; skin rash; thrombocytopenia; unconsciousness; macrophage activation syndrome |
Diseases of Immune Dysregulation |
Autosomal recessive |