E-resources
Peer reviewed
Open access
-
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
Pediatric blood & cancer, 12/2023, Volume: 70, Issue: 12Journal Article
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.
Author
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.