Abstract
SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent
regulator of chromatin, subfamily D, member 2) is critical for
myelopoiesis. Recently, bi-allelic SMARCD2 mutations have been
reported in five children causing autosomal recessive c ongenitaln eutropenia with s pecific g ranulocytesd eficiency (CN-SGD); a syndrome resulting in G-CSF resistant
neutropenia, recurrent infections and dysplastic myelopoiesis. We report
a new case with CN-SGD caused by two novel heterozygous pathogenic
variants in the SMARCD2 genec.1081del (p.Gln361Argfs*15),
and c.217C>T (p.Arg73*)) . Treatment with weekly dosing of
thrombopoietin receptor agonist, Romiplostim, along with daily G-CSF
transformed her clinical course implying potential synergism. This
report advances understanding about CN-SGD caused by SMARCD2mutations.