Residual ROS (superoxide) production by 10⁵ neutrophils.

<p>CL: lucigenine enhanced chemoluminescence, arbitrary light units in 30 min. PMA: phorbol myristate acetate.</p

Primers overlapping exons 10 and 13 to confirm the presence of p67delex11,12.

<p>The forward sequence of the reverse primers is shown.</p

NADPH oxidase with p67delex11,12 instead of complete p67-phox yields ROS.

<p>A, K562 cells that permanently express all components of the NADPH oxidase. B, same cells, but lacking p67-phox. C, same cells as in B, but transduced with complete p67-phox. D, same cells as in B, but transduced with p67delex11,12. Arbitrary light units ×10<b>⁶</b> over 45 min; 5 independent transductions.</p

Schematic representation of the normal exon arrangement (A) and two main splice products in the patients (B).

<p>Italic letters represent the bp sequence at the exon 11/12 junction, the other capital letters represent the amino acid sequences at exonic junctions. The deletion of exons 11 and 12 does not affect a known functional domain (A, top), but may shorten the distance between the first SH3 domain (possibly binding to gp91-phox) and the PB1 domain (binding to p40-phox).</p

PCR with primers (<b>Table 1</b>) overlapping exons 10 and 13 gave amplimers only when applied to patient's cDNA, but not when applied to cDNA from a healthy donor.

<p>The correct sequence of the amplimers was confirmed. Ordinate: length in bp.</p

Overview over medical histories.

*<p>The medical histories of childhood are slightly vague because no documents were available, but rely on what the patients and their mother remember.</p

Production of small amounts of ROS (hydrogenperoxide) by neutrophils from the index patient

<p>(A, straight line) <b>and normal expression of cytochrome b558</b> (consisting of gp91-phox and p22-phox, B). <b>A</b>, DHR assay; no stimulation, gray area; activation with PMA, patient's cells, straight line; cells from a healthy control donor, dotted line; the residual NADPH oxidase activity was reproducible in different labs. <b>B</b>, cell staining with the mab 7D5; gray area, isotype control; lines as in A. Abscissa, green fluorescence.</p

Gastrointestinal manifestations of CGD.

<p>Gastrointestinal manifestations of CGD.</p

Most frequently isolated micro-organisms.

<p>Most frequently isolated micro-organisms.</p

Prevalence and causes of brain abscess.

<p>Prevalence and causes of brain abscess.</p