Introduction
The SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) gene plays an important in role chromatin remodeling and myeloid differentiation in humans, zebrafish and mice.1 Recently, homozygousSMARCD2 mutations were reported to cause autosomal recessivec ongenital n eutropenia with s pecificg ranulocyte d eficiency (CN-SGD)1-3, a syndrome characterized by dysplastic myelopoiesis and sub-optimal phagocytotic activity leading to recurrent skin and deep-seated pyogenic infections.4 These children present with life-threatening infections and granulocyte colony stimulating factor (G-CSF) resistant neutropenia requiring treatment with hematopoietic stem cell transplantation (HSCT). Other features include facial and skeletal dysmorphism such as misaligned teeth and brittle nails in addition to developmental delay and learning difficulties.1,2 To date, five patients with CN-SGD have been reported and understanding about the genotype-phenotype relationship is still evolving.2,5,6 In this report, we elaborate the clinical course and management of a pediatric patient with CN-SGD caused by novel double heterozygous mutations withinSMARCD2. This is the sixth case with CN-SGD caused bySMARCD2 mutations.