Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.

ABSTRACT:

Background

SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2) has recently been shown to have a critical role in granulopoiesis in humans, mice, and zebrafish. Our patient presented with delayed cord separation, failure to thrive, and sepsis. Retrospective whole-exome sequencing confirmed a homozygous splice-site mutation in SMARCD2.

Objective

We sought to provide the second description of human SMARCD2 deficiency and the first functional analysis of human primary SMARCD2-deficient cells.

Methods

Heparinized venous blood and bone marrow were collected from the patient after obtaining informed consent. Patient leukocytes and CD34⁺ cells were then isolated, phenotyped, and assessed functionally.

Resu

SUBMITTER: Schim van der Loeff I 

PROVIDER: S-EPMC8168953 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature