Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman–Bodian–Diamond syndrome

Shwachman–Bodian–Diamond syndrome (SBDS) is an autosomal-recessive bone-marrow-failure-syndrome (BMFS). The prevalence of SBDS is 1:76.000 [1]. Clinical presentation is a typical triad of exocrine ...