Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous Mutations

Overview

Journal Hematol Rep

Publisher MDPI

Date 2022 Sep 22

PMID 36135322

Authors

Abukhiran Ibrahim

Anjali Sharathkumar

Heather McLaughlin

David Claassen

Sharathkumar Bhagavathi

Affiliations

Soon will be listed here.

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 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 the weekly dosing of thrombopoietin receptor agonist, Romiplostim, along with daily G-CSF transformed her clinical course, implying potential synergism. This report advances the understanding of CN-SGD caused by SMARCD2 mutations.

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