As a central regulatory pathway of cellular activation, dysregulation of NF-κB activity underlies a spectrum of autoinflammatory and autoimmune disorders, including Blau syndrome, A20 haploinsufficiency, Deficiency of adenosine deaminase 2 (DADA2), Tumor necrosis factor receptor-1-associated periodic syndrome (TRAPS), and gain-of-function defects in Alpha-protein kinase 1 (ALPK1) (ROSAH syndrome) (6). The gene discussed is ALPK1; the disease is retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.