Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function
Laura Dotta,
Giulia Baresi,
Nicola Tamassia
et al.
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 th… Show more
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