Shwachman Diamond syndrome (SDS) is a rare recessive autosomal disease, mostly caused by mutations in the SBDS (for Shwachman-Bodian-Diamond Syndrome) gene, also known as SBDS ribosome maturation factor, that is involved in the biogenesis of ribosomes and in mitotic spindle stabilization [36,37]. The gene discussed is SBDS; the disease is Shwachman-Diamond syndrome.