TSR2 and Shwachman-Diamond syndrome: In line with this observation, germ-line mutations resulting in haploinsuffiency of ribosomal protein large and small subunits (RPL and RPS, respectively) such as RPS19, RPS26, RPS17, RPL5, and RPL11 or assembly chaperones such as TSR2 ribosome maturation factor (TSR2) result in “ribosomopathies,” which preferentially lead to defects in myeloid differentiation and present as anemias such as Diamond-Blackfan Anemia and Shwachman-Diamond syndrome [9].