Congenital dysgranulopoietic neutropenia

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

PEDIATRIC BLOOD & CANCER, cilt.50, sa.1, ss.115-119, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 1
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1002/pbc.20877
  • Dergi Adı: PEDIATRIC BLOOD & CANCER
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.115-119
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.