Journal article
Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations
Hematology reports, Vol.14(3), pp.270-275
09/09/2022
DOI: 10.3390/hematolrep14030038
PMCID: PMC9498992
PMID: 36135322
Abstract
Case report.
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.
Details
- Title: Subtitle
- Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations
- Creators
- Ibrahim Abukhiran - Roy J. and Lucille A. Carver College of MedicineAnjali SharathkumarHeather McLaughlinDavid ClaassenSharathkumar Bhagavathi
- Resource Type
- Journal article
- Publication Details
- Hematology reports, Vol.14(3), pp.270-275
- DOI
- 10.3390/hematolrep14030038
- PMID
- 36135322
- PMCID
- PMC9498992
- NLM abbreviation
- Hematol Rep
- ISSN
- 2038-8322
- eISSN
- 2038-8330
- Language
- English
- Date published
- 09/09/2022
- Academic Unit
- Stead Family Department of Pediatrics; Pathology; Hematology/Oncology
- Record Identifier
- 9984297556702771
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