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Autosomal recessive chronic granulomatous disease with absence of the 67-kD
cytosolic NADPH oxidase component: identification of mutation and detection
of carriers
M de Boer, PM Hilarius-Stokman, JP Hossle, AJ Verhoeven, N Graf, RT Kenney, R Seger and D Roos
Central Laboratory, Netherlands Red Cross Blood Transfusion Service,
Amsterdam.
Chronic granulomatous disease (CGD) is characterized by the failure of
phagocytic leukocytes to kill certain bacteria and fungi. This is caused by
deficiencies in one of the components of NADPH oxidase, the enzyme in
phagocytic leukocytes that generates superoxide. In a rare, autosomal
recessive form of CGD, a 67-kD cytosolic component of NADPH oxidase
(p67-phox) is missing. Until now, mutations in the gene coding for this
protein have not been identified. We now report on a 10-year- old girl with
lymph node and liver abscesses who was recognized as an A67(0) CGD patient
by lack of NADPH oxidase activity in her granulocytes, a cytosolic defect
in a cell-free oxidase system, and lack of immunoreactive material with an
antiserum against the p67-phox protein. mRNA for this protein was present
in normal amounts in her monocytes. This p67-phox mRNA was
reverse-transcribed, and the coding region was amplified by polymerase
chain reaction in six overlapping fragments and was sequenced. The patient
appeared to be homozygous for a G-233-->A mutation, resulting in a
nonconservative amino acid change (78Gly-->Glu). This mutation was also
found in the genomic DNA of this patient but not in that of 38 normal
donors. Both parents and a sister proved to be carriers of the disease, as
deduced from the mutation in only one allele. The carrier state was also
manifested by intermediate superoxide production by their intact
granulocytes and in the cell-free system.
Volume 83,
Issue 2,
pp. 531-536,
01/15/1994
Copyright © 1994 by The American Society of Hematology
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