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Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function.
Dotta, Laura; Baresi, Giulia; Tamassia, Nicola; Calzetti, Federica; Bianchetto-Aguilera, Francisco; Gasperini, Sara; Gardiman, Elisa; Chiarini, Marco; Moratto, Daniele; Martellosio, Giovanni; Serana, Federico; Micheletti, Moira; Tregambe, Daniela; Pintabona, Vincenzo; Soncini, Elena; Meini, Antonella; Girelli, Maria Federica; Beghin, Alessandra; Lanfranchi, Arnalda; Bugatti, Mattia; Brugnoni, Duilio; Soresina, Annarosa; Plebani, Alessandro; Cassatella, Marco; Vermi, William; Porta, Fulvio; Badolato, Raffaele.
Afiliação
  • Dotta L; Department of Pediatrics, ASST Spedali Civili of Brescia, Department of Clinical and Experimental Sciencies, University of Brescia, Brescia, Italy.
  • Baresi G; Pediatric Oncohaematology and BMT Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Tamassia N; General Pathology Section, Department of Medicine, University of Verona, Verona, Italy.
  • Calzetti F; General Pathology Section, Department of Medicine, University of Verona, Verona, Italy.
  • Bianchetto-Aguilera F; General Pathology Section, Department of Medicine, University of Verona, Verona, Italy.
  • Gasperini S; General Pathology Section, Department of Medicine, University of Verona, Verona, Italy.
  • Gardiman E; General Pathology Section, Department of Medicine, University of Verona, Verona, Italy.
  • Chiarini M; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Moratto D; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Martellosio G; Hematology Unit, Clinical Chemistry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Serana F; Hematology Unit, Clinical Chemistry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Micheletti M; Hematology Unit, Clinical Chemistry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Tregambe D; Hematology Unit, Clinical Chemistry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.
  • Pintabona V; Pediatric Oncohaematology and BMT Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Soncini E; Pediatric Oncohaematology and BMT Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Meini A; Department of Pediatrics, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Girelli MF; Department of Pediatrics, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Beghin A; Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Lanfranchi A; Stem Cell Laboratory, Section of Hematology and Blood Coagulation, Clinical Chemistry Laboratory, Diagnostics Department, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Bugatti M; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Brugnoni D; Department of Laboratory Diagnostics, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Soresina A; Department of Pediatrics, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Plebani A; Department of Pediatrics, ASST Spedali Civili of Brescia, Department of Clinical and Experimental Sciencies, University of Brescia, Brescia, Italy.
  • Cassatella M; General Pathology Section, Department of Medicine, University of Verona, Verona, Italy.
  • Vermi W; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
  • Porta F; Pediatric Oncohaematology and BMT Unit, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Badolato R; Department of Pediatrics, ASST Spedali Civili of Brescia, Department of Clinical and Experimental Sciencies, University of Brescia, Brescia, Italy.
Pediatr Blood Cancer ; 70(12): e30671, 2023 Dec.
Article em En | MEDLINE | ID: mdl-37712719
ABSTRACT
We 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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article