ALPK1 and PFAPA syndrome: Recently, Sangiorgi et al. studied a small population of familial and sporadic cases of PFAPA-like patients identifying variants in the ALPK1 gene [97]; a specific missense mutation (T237M) in this same gene has been also related to a new autosomal dominant autoinflammatory condition called ROSAH syndrome, characterized by retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and migraine [98].