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Article

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

The Journal of allergy and clinical immunology - 1 Jun 2021

Schim van der Loeff Ina, Sprenkeler Evelien G G, Tool Anton T J, Abinun Mario, Grainger Angela, Engelhardt Karin R, van Houdt Michel, Janssen Hans, Kuijpers Taco W, Hambleton Sophie

Abstract excerpt

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...

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Identifiers

PMID: 33279574
DOI: 10.1016/j.jaci.2020.11.025
PMCID: PMC8168953

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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