Article
Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function.
Pediatric blood & cancer - 1 Dec 2023
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
Abstract excerpt
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...
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