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Congenital dysgranulopoietic neutropenia: clinical, serologic,
ultrastructural, and in vitro proliferative characteristics
RT Parmley, WM Crist, AH Ragab, LA Boxer, A Malluh, VK Lui and CP Darby
Six children with severe congenital neutropenia and repeated life-
threatening infections were investigated by examining clinical features and
myeloid cell ultrastructure, cytochemistry, and in vitro proliferation.
Despite the presence of neutropenia, normal numbers of colony-forming cells
(CFC) were present in blood and marrow specimens, and colony-stimulating
activities (CSA) from blood cells and serum were normal or slightly
increased in all patients. In vitro maturation of the progenitors to
neutrophils was also uniformly present in the colonies. No patients had
demonstrable antineutrophil antibodies or serum inhibitors of myelopoiesis.
Serum lysozyme levels were normal. Ultrastructural and cytochemical studies
of directly sampled marrow cells revealed several abnormalities in most
neutrophilic myeloid cells from each of the patients consistent with an
intrinsic myeloid precursor cell defect. These included (1) the defective
synthesis or degeneration of primary granules, (2) an absence or marked
decrease of secondary granules in the few late neutrophils observed in the
bone marrow, and (3) the presence of autophagy. Phagocytosis of intact
myeloid cells with subsequent degeneration was not observed; however,
neutrophil debris was evident in phagocytic vacuoles of marrow macrophages.
Our demonstration of ultrastructurally dysmorphic neutrophilic
granulocytes, intramedullary cell lysis, normal stem cell numbers, and
negative serology is comparable to similar observations of erythroid cells
from patients with congenital dyserythropoietic anemia. We therefore
hypothesize that the dysgranulopoiesis in these children results in
neutropenia and propose the descriptive name congenital dysgranulopoietic
neutropenia.
Volume 56,
Issue 3,
pp. 465-475,
09/01/1980
Copyright © 1980 by The American Society of Hematology
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