Congenital dysgranulopoietic neutropenia.
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.
Olcay
Lale
L
Unit of Pediatric Hematology, Ankara Oncology Hospital, Demetevler, Ankara, Türkiye. laleolcay@hotmail.com.tr
Yetgin
Sevgi
S
Erdemli
Esra
E
Germeshausen
Manuela
M
Aktaş
Dilek
D
Büyükaşik
Yahya
Y
Okur
Hamza
H
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
D016179:Granulocyte Colony-Stimulating Factor; D019272:Leukocyte Elastase