has material basis in germline mutation in IKBKG autoinflammatory syndrome hereditary disorder of connective tissue autoinflammatory disease, X-linked https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/autoinflammatory_disease_systemic_x_linked UMLS:C5676885 OMIM:301081 MONDO:0800129 MEDGEN:1811268 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. NEMO deleted exon 5 syndrome Orphanet:699605 GARD:0026447 autoinflammatory syndrome, X-linked