Notably, RINT1 mutations led to decreased protein levels of NBAS, which variants were identified initially as a cause of short stature, optic atrophy and Pelger Huet anomaly (SOPH syndrome, MIM no. 614800)(62), and later, of fever-triggered recurrent ALF (63–66). The gene discussed is NBAS; the disease is short stature-optic atrophy-Pelger-Huët anomaly syndrome.