Congenital Neutropenia With Specific Granulocyte Deficiency Caused By Novel Double Heterozygous SMARCD2 Mutations: is there a benefit of thrombopoietin receptor agonist therapy?
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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 congenital neutropenia with specific granulocytes deficiency (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 gene (c.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 SMARCD2 mutations.