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Congenital dysgranulopoietic neutropenia
Author(s) -
Olcay Lale,
Yetgin Sevgi,
Erdemli Esra,
Germeshausen Manuela,
Aktaş Dilek,
Büyükaşık Yahya,
Okur Hamza
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20877
Subject(s) - medicine , congenital neutropenia , neutropenia , pdgfrb , blood cancer , immunology , pathology , cancer , genetics , biology , chemotherapy , gene
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. Pediatr Blood Cancer 2008;50:115–119. © 2006 Wiley‐Liss, Inc.