Congenital dysgranulopoietic neutropenia

Olcay L., Yetgin S., Erdernli E., Germeshausen M., Aktas D., Buyukasik Y., ...More

PEDIATRIC BLOOD & CANCER, vol.50, no.1, pp.115-119, 2008 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 1
  • Publication Date: 2008
  • Doi Number: 10.1002/pbc.20877
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.115-119


We investigated a 15-year-old female with congenital dysgranulopoietic neutropenia (CDN) and her non-neutropenic mother who had recurrent stomatitis. In both patients, cells of the neutrophilic, eosinophilic, monocytic, megakaryocytic, and basophilic series were dysmorphic. Plasmacytoid lymphocytes and mild megaloblastic erythroid precursors were present. Bleeding times of both patients were prolonged. The mother had a secondary aggregation defect; the number of the plasmacytoid lymphocytes, dense granules of platelets, and dysmorphic neutrophils, neutrophil chemotaxis, and myeloperoxidase content fluctuated according to the presence or not of aphthae. The daughter's karyotype revealed 46,XX/46,XX, t(1;8). No ELA2 or G-CSFR mutation was detected. These findings support stem cell involvement in CDN.