Article

Congenital Neutropenia With Specific Granulocyte Deficiency Caused By Novel Double Heterozygous SMARCD2 Mutations: is there a benefit of thrombopoietin receptor agonist therapy?

2024-01-31

Abstract excerpt

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...

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Literature Corpus work: 840fa5d4-6036-596d-ad3b-658ee46f8c44
DOI: 10.22541/au.170669090.00774557/v1

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