SBDS and Shwachman-Diamond syndrome: Sixteen Italian patients with Shwachman-Diamond syndrome and bi-allelic SBDS variants were screened for additional variants in DNAJC21, EFL1, and SRP45. One of the two germline-mutated SBDS patients with compound heterozygous SBDS variants and an additional heterozygous DNAJC21 variant was reported to suffer from a more severe hematologic phenotype, in particular severe neutropenia (70).