Measurement of serum granulocyte colony-stimulating factor in a patient with congenital agranulocytosis (Kostmann's syndrome)
L. Glasser, B. R. Duncan and J. J. Corrigan Jr
Department of Pathology, University of Arizona Health Sciences Center, College of Medicine, Tucson.
A 12-month-old boy with Kostmann's syndrome was admitted with cavitary
pulmonary disease. He had also had bacterial conjunctivitis, periorbital
cellulitis, pneumonitis, and otitis media since the age of 10 days. His
umbilical cord had not fallen off until he was 3 weeks old. Neutropenia was
diagnosed at 4 weeks of age. Antineutrophil antibody studies were negative.
A bone marrow aspirate showed granulocytic hypoplasia and a maturation
arrest at the promyelocyte stage. Hematopoietic cell culture showed normal
numbers of colony-forming units-granulocyte macrophage. Serum
granulocyte-macrophage colony-stimulating factor level, was 0.24 ng/mL
(normal, greater than 0.05 ng/mL). Serum granulocyte colony-stimulating
factor levels, measured by enzyme immunoassay, were undetectable. The
patient was successfully treated with filgrastim (granulocyte
colony-stimulating factor), with an increase in the absolute neutrophil
count to 10.0 x 10(9)/L. Thus, our case of Kostmann's syndrome appears to
represent a defect in regulation or production of granulocyte
colony-stimulating factor.
