Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function-Reference-Cited by-同舟云学术

Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function

Published:2023-09-15 Issue:12 Volume:70 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Dotta Laura¹^ORCID,Baresi Giulia²,Tamassia Nicola³,Calzetti Federica³,Bianchetto‐Aguilera Francisco³,Gasperini Sara³,Gardiman Elisa³,Chiarini Marco⁴,Moratto Daniele⁴^ORCID,Martellosio Giovanni⁵,Serana Federico⁵,Micheletti Moira⁵,Tregambe Daniela⁵,Pintabona Vincenzo²,Soncini Elena²,Meini Antonella⁶,Girelli Maria Federica⁶,Beghin Alessandra⁷,Lanfranchi Arnalda⁷,Bugatti Mattia⁸,Brugnoni Duilio⁹,Soresina Annarosa⁶,Plebani Alessandro¹,Cassatella Marco³,Vermi William⁸,Porta Fulvio²,Badolato Raffaele¹

Affiliation:

1. Department of Pediatrics ASST Spedali Civili of Brescia Department of Clinical and Experimental Sciencies University of Brescia Brescia Italy

2. Pediatric Oncohaematology and BMT Unit ASST Spedali Civili of Brescia Brescia Italy

3. General Pathology Section Department of Medicine University of Verona Verona Italy

4. Flow Cytometry Unit Clinical Chemistry Laboratory ASST Spedali Civili of Brescia Brescia Italy

5. Hematology Unit Clinical Chemistry Laboratory Diagnostic Department ASST Spedali Civili di Brescia Brescia Italy

6. Department of Pediatrics ASST Spedali Civili of Brescia Brescia Italy

7. Stem Cell Laboratory Section of Hematology and Blood Coagulation Clinical Chemistry Laboratory Diagnostics Department ASST Spedali Civili of Brescia Brescia Italy

8. Department of Molecular and Translational Medicine University of Brescia Brescia Italy

9. Department of Laboratory Diagnostics ASST Spedali Civili of Brescia Brescia Italy

Abstract

AbstractWe report a novel case of SMARCD2 (SWI/SNF‐related, matrix‐associated, actin‐dependent regulator of chromatin, subfamily D, member 2) mutation successfully treated with hematopoietic stem cell transplantation. The female patient presented delayed cord separation, chronic diarrhea, skin abscesses, skeletal dysmorphisms, and neutropenia with specific granule deficiency. Analysis of the transcriptomic profile of peripheral blood sorted mature and immature SMARCD2 neutrophils showed defective maturation process that associated with altered expression of genes related to specific, azurophilic, and gelatinase granules, such as LTF, CRISP3, PTX3, and CHI3L1. These abnormalities account for the prevalence of immature neutrophils in the peripheral blood, impaired function, and deregulated inflammatory responses.

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30671

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