抄録
Two sisters with extreme neutrophilia and recurrent infections are reported.
The neutrophils of the younger sister exhibited impaired adhesion, chemotaxis and phagocytosis, but hyperresponse of O2 production and membrane potential changes by the stimulants. Her neutrophils and mononuclear cells (mostly lymphocytes) lack 110K and 98K dalton membrane proteins and 95K dalton membrane protein, respectively. The cells of the parents contained an approximatley half amount of these proteins, supporting that the disease is probably transmitted by an autosomal recessive trait.
Mo1 positive neutrophils and monocytes were 1.4% and 33% respectively, indicating significant decreases compared with controls.
The marked neutrophilia may result from an increase of CFU-C and a reduced ability of neutrophils to invade into tissues.
The lymphonodes of both patients were found to be hypoplastic with lymphocyte depletion in the lymphatic parenchyma. These findings seemed to be the hallmark of the disease.
