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.