Consistent with the observations in patients with ROSAH syndrome, knock-in mice with the Alpk1 T237M mutation had elevated serum levels of CXCL1, CXCL10 and CCL2 (online supplemental figure 11a). The gene discussed is CXCL1; the disease is retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.