Autoinflammatory disease, X-linked
Autoinflammatory disease, X-linked
Definition
An autoinflammatory syndrome characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.
Also known as autoinflammatory syndrome, X-linked, NEMO deleted exon 5 syndrome — per MONDO