title: Congenital dysgranulopoietic neutropenia.
abstract: 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.
authors.affiliation: Unit of Pediatric Hematology, Ankara Oncology Hospital, Demetevler, Ankara, Türkiye. laleolcay@hotmail.com.tr
authors.forename: Lale
authors.initials: L
authors.lastname: Olcay
authors.forename: Sevgi
authors.initials: S
authors.lastname: Yetgin
authors.forename: Esra
authors.initials: E
authors.lastname: Erdemli
authors.forename: Manuela
authors.initials: M
authors.lastname: Germeshausen
authors.forename: Dilek
authors.initials: D
authors.lastname: Aktaş
authors.forename: Yahya
authors.initials: Y
authors.lastname: Büyükaşik
authors.forename: Hamza
authors.initials: H
authors.lastname: Okur
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000235:genetics; D006801:Humans; D019272:Leukocyte Elastase / Q000235:genetics; D009503:Neutropenia / Q000097:blood / Q000151:congenital* / Q000235:genetics; D009504:Neutrophils / Q000473:pathology
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase